Mito is difficult to diagnose as symptoms can range from mild to severe and can impact many different organs and body systems. The most severe forms of mito can lead to mortality or significant disability.

Currently the treatment options for mito are limited so preventative options are very important to avoid the devastating impacts on individuals and families.

Some options are available at the moment for women who are planning a family and are at increased risk of having a child with mito. Pre-implantation genetic diagnosis (PGD) and in-vitro fertilisation (IVF) using donated eggs are possibilities but PGD is not suitable for women at high risk of having a child with mito. Another option may be on the horizon for couples to have children who are genetically related to both parents; mitochondrial donation.

The technique involves replacing the mitochondrial DNA in the mother’s egg with DNA from a donor egg. This represents less than 0.1% of the mother’s genetic material that is being passed on to her baby, but when a mother has a high risk of passing on mutated mitochondrial DNA, this could save her child from a potentially life-threatening or highly debilitating illness.

Currently the practice is illegal in Australia as it contravenes laws against cloning and research involving human embryos. However, in June 2018 the Senate Community Affairs References Committee recommended that the government begin taking steps towards potentially legalising mitochondrial donation.

Professor David Thorburn is co-Group Leader of Brain & Mitochondrial Research at the Murdoch Children’s Research Institute and has worked on mito for over 25 years. He is also a founding director of the Mito Foundation and the Chair of their Scientific & Medical Advisory Panel. We asked Prof Thorburn some questions about mitochondrial donation.

1. How does a woman know she is a carrier of mito?

Most women don’t know they have a chance to pass on mito. Some families have strong maternal histories with multiple cases of mito being passed down maternal lines so the risk is clear. Some women may also have found out about their mito risk after having a child die in infancy. Sometimes a woman may have a child with severe mito and then had genetic testing herself for mutations. On closer questioning and investigation doctors may uncover symptoms in the mother that were not previously attributed to mito such as problems with sight, mild hearing loss or exercise intolerance. More often than not there is no known family history.

2. Can women be screened before conception?

It is possible for women at high risk, who have a family history of mito to be screened. As with most other genetic diseases we do not have broad population screening.

This is in part because it is much harder to screen for mitochondrial DNA as some mutations can disappear from the blood with age so would not show up on a blood test. We can use a muscle biopsy to test for mito but this is more invasive so we often test urine as the mutation can be present in urine sediment when not detectable in the blood. However, in around a quarter of cases where the child is diagnosed with mito, no mutation is detected in the mother when she is tested. This may be due to what’s known as a de novo event – a one off mutation in that single egg that was fertilised that led to the child having mito. Due to these complexities it is currently impractical to screen all women for mito.

3. How many births could be helped by the introduction of mitochondrial donation?

Based on studies from the UK and extrapolated to the Australian context, the Mito Foundation estimates about 56 births per year in Australia are at high risk of having a child with mito.

Only a proportion of those would be wanting to access mito donation as current options are suitable for some couples, including prenatal diagnosis, preimplantation genetic diagnosis or using a full donor egg for IVF. These may be the preferred options for a woman depending on her circumstances and in many cases a woman may need to try one of these options first before being able to access mitochondrial donation.

4. How will babies be monitored for complications?

There has been extensive research done in the UK to ensure this technique is as safe as possible. The first families to use the technique in Australia would be part of a clinical trial. In the UK model families gave consent for samples such as umbilical cord and the newborn blood screening spots to be kept for pathology testing. This looked for the mutation that the mother had to see if it had been passed to the child – and how much of that mutated DNA the child had received. During their development a child would have some extra tests but these would be done with the normal checks that children receive in their early life, checking again for the presence of the mutation and any change in the amount of that DNA.

Australia is well regarded as a leading nation in mitochondrial diagnosis and IVF technologies. This technique requires significant expertise in molecular testing and reproductive biology. The Senate committee examined the provision of pathology services and were reassured that the accreditation and quality systems that Australian pathology laboratories adhere to are first class. This would enable the ground-breaking technique of mitochondrial donation to become a reality for Australian families.

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Here are five reasons why it might be worth talking to your healthcare professional about getting tested.

Family history

One of the first questions doctors will ask about you for certain conditions, particularly some cancers, is if there is an existing family history of the condition. Family history does not mean you have or will definitely contract a certain condition, however, it can be an indicator of higher risks, which suggest that further investigation may be needed

‘Having the same condition in multiple family members can be cause for concern, as it means there may be a genetic connection. Therefore, being related to them could mean you may be at risk of carrying the same genetic change,’ says Dr Melody Caramins, the National Director of Genomics at Primary Healthcare.

Ethnicity

Ethnicity is slightly different to family history but does heavily overlap. It can be surprising to know that certain ethnicities are more likely to have certain conditions.

For example, sickle cell disease is more common in people of African, African American, or Mediterranean heritage while Tay-Sachs disease is more likely to occur among people of Jewish or French-Canadian ancestry.* Being aware of the ethnicity of direct family members (parents and grandparents) can be useful information.

‘A person’s ethnic background can tell us what they may be at higher risk for – even if there isn’t any family history for the condition – because ethnic groups share higher proportions of similar genetic material. However, it should be noted that that doesn’t mean other ethnicities cannot get those same conditions,’ says Dr Caramins

Symptoms

The most obvious reason to go get any medical test is if you are exhibiting symptoms. You know your body better than anyone, so if something doesn’t seem right, it’s definitely worth going to your doctor for a check-up – which may include a blood test, a saliva swab or a tissue sample to discern more information.

Exposure

‘There’s a bug going around’ is something that everyone has either heard or said at some point. With so many infectious conditions – some as common as the cold, flu or STIs, to more life-threatening conditions such as Hepatitis and HIV – it can be hard to keep track of what is contagious and how it is spread. It’s important to get tested if you have been exposed to an area or person with an infectious condition, even if you are not showing any symptoms.

Lifestyle factors

Some people like to eat too much sugar or fried foods. Some people are smokers and some don’t do enough exercise. Some get too much sleep, while others too little. These lifestyle factors can all impact your health.

The habits we have can increase our risk of developing certain health conditions. While lifestyle factors are things that you can change, if you’ve had those habits for years, even decades, it would be worth being tested.

* https://ghr.nlm.nih.gov/primer/inheritance/ethnicgroup

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In a study involving 12,000 women, one in twenty people tested were found to be carriers of one of the three above mentioned conditions. But if you think that family history is an indicator, you’d be wrong: 88 per cent of carriers had no family history of the condition.

The government announced this year it would fund Mackenzie’s Mission with a view to making genetic carrier screening accessible to all prospective parents. Still many people don’t know that carrier screening is already available. To a large degree the low level of awareness is due to the fact that, until recently, doctors restricted these discussions to families where there was a family history of the condition.

New practice guidelines from the Royal Australian and New Zealand College of Obstetrics and Gynaecology (RANZCOG) released this year (2018) now recommend discussing the availability of genetic screening with all prospective parents.

While testing for conditions like Down syndrome and the more common inherited disorders such as SMA, Fragile X and Cystic Fibrosis are well established, the advances in genetic technology mean that it’s now easier to test for hundreds of less prevalent disorders, potentially creating a slippery slope where it’s difficult to draw the line on what constitutes a serious enough condition for investigation or intervention.

And with more screening comes the potential for greater economic and human resource costs to the health system.

Dr Melody Caramins, Chair of the Royal College of Pathologists of Australasia’s (RCPA) Genetics Advisory Committee, states it’s an issue that needs addressing as new genetic technology comes onboard:

“It’s an important question, which is why the RCPA is currently preparing an application for funding of basic carrier screening to be considered for inclusion on the Medicare Benefits Schedule.

“Obviously, the more information that can be provided to a parent about the risks of conditions developing, the more power they have to make decisions,” says Dr Caramins.

“Couples where both parents are carriers of cystic fibrosis or spinal muscular atrophy have a one in four chance of passing that condition onto a child.”

For those interested in being tested, the carrier screening test for cystic fibrosis, Fragile X syndrome and SMA is not covered by Medicare. It’s available through a number of pathology and testing providers and costs $345-400. In Australia, it is widely available in all states and territories.

Expanded preconception (or pre-pregnancy) screening sifts through a person’s genes to evaluate their carrier status for hundreds of conditions, by looking at DNA mutations and recessive genes, and is available through a number of Australian providers and can be valuable.

For example, the recessive brain condition, Tay-Sachs disease, was prevalent amongst Ashkenazi Jews but after screening was introduced in the 1970s, incidence of the condition dropped by 90%. In Mediterranean countries thalassaemia has been greatly reduced by pre-pregnancy screening.

But while screening can help identify risks, that doesn’t mean a baby will definitely manifest the condition. It should also be noted that some conditions can develop in the womb.

“It’s a lot of information to absorb and to consider,” says Dr Caramins “Patients thinking about availing themselves of the service are recommended to have genetic counselling.”

The post Navigating pregnancy and genetic tests first appeared on Know Pathology Know Healthcare.

Those were the words from Paediatric neurologist Dr Michelle Farrar last month in response to the announcement from Health Minister Greg Hunt that the government would be investing tens of millions of dollars into improving access to pre-natal genetic testing for prospective parents.

It is the single largest investment of the Medical Research Future Fund and has been dubbed “Mackenzie’s Mission” after Mackenzie Casella, who sadly past away last year, aged 7 months, due to spinal muscular atrophy (SMA).

Mackenzie’s parents, Rachael and Jonny, have been working tirelessly since the tragic death of their daughter to raise awareness for the genetic condition and to lobby for increased testing so that other parents don’t have to go through the same pain. They joined Minister Hunt for the announcement at the start of March. Jonny said;

“It means everything to us. We’ve been lobbying so hard for months to try and make a change in this country, and for Mackenzie’s life to be acknowledged in this way, I can’t even express how much it means.”

SMA is a rare, genetic condition whereby a loss of motor neurons causes muscle to waste away. This usually starts in the limbs but eventually the muscle loss affects the person’s ability to swallow or breathe. If both parents carry the SMA genetic mutation, there is a one in four chance that their child will develop the disorder.

The parents explained they had never heard of SMA before their daughter was diagnosed at ten weeks old. They certainly were not aware that there was a blood test available that would have told them they are both carriers of the SMA gene before Rachael became pregnant.

Currently expectant parents can pay $385 for a blood test to find out if they are carriers for SMA, cystic fibrosis and Fragile X syndrome. Approximately 1 in 20 Australians carry at least one of the gene mutations.

But the cost could be a barrier for some people and there is poor awareness that the test is an option, even amongst doctors. As well as going towards subsidizing the test for any prospective parents that wish to have it, the investment will also be used to increase awareness amongst the general population and healthcare professionals around genetic screening.

Rachael and Jonny hope that this will one day mean pre-pregnancy screening is routine for anyone in Australia wishing to have a child.

Further down the line funding will also go towards increasing testing for those going through IVF. Fertilized eggs can be tested for genetic markers before implantation, which as the Minister put it “is a far less traumatic process than discovering in utero.”

Finally, some of the money will be invested into research and improving access to treatment for those with existing genetic conditions.

Dr Melody Caramins, a Sydney based genetic pathologist welcomed the announcement from the Health Minister;

“Not everyone will want the test but it’s important that we arm expectant parents or those planning a pregnancy with the necessary information to make that decision. If people are not aware that a test exists, or if it is not easily accessible, we are wasting this incredibly valuable technology.”

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Minister for Aged Care and Minister for Indigenous Health, Ken Wyatt AM, said the $9.4 million grant to Flinders University’s College of Medicine and Public Health would help tackle the world’s leading cause of irreversible blindness.

“The potential to personalise treatment through genetics is exciting because glaucoma already affects approximately 300,000 Australians, with up to 80 million predicted to suffer from the disease worldwide by 2020,” Minister Wyatt said.

“It’s long been known that a family history of glaucoma means increased risk but there are no symptoms or warning signs in the early stages.

“Testing is vital and, although there is no cure, with treatment glaucoma can be controlled and further loss of sight either prevented or slowed.”

Glaucoma is a group of eye diseases in which the optic nerve at the back of the eye is slowly destroyed. In most people this damage is due to an increased pressure inside the eye as a result of a build-up of fluid.

Sight loss is usually gradual and a considerable amount of peripheral vision may be gone before people are aware of any problem.

Member for Boothby, Nicolle Flint MP, said the research grant would support the work of Flinders University.
“Eye and vision science is one of Flinders University’s key strengths in both teaching and research,” Ms Flint said.

“Researchers at Flinders University will examine new ways to diagnose and treat glaucoma, promising better outcomes for patients. Improved care will also result from better targeting of treatments and monitoring of low risk cases.

“Health and medical research is a powerful investment and one that delivers immense benefits to patients and to the economy.”

The annual economic cost of glaucoma in Australia has been estimated at more than $144 million.

“Research based on knowledge of the genes that lead to glaucoma blindness will have important real-world impacts in reducing the worldwide suffering caused by this common condition,” Minister Wyatt said.

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Cancer treatment is highly specialised and many drug treatments are now given based on pathology results that show the drug is likely to be effective. However, this type of testing is limited to specific genes or panels of genes and is ordered when doctors already know some information about the cancer, specifically where in the body it is.

Determining the type or origin of cancer may seem obvious; if cancer is found in the liver, it’s liver cancer right? Unfortunately, that is not always true.

If a person has cancer that spreads to another area of the body (metastasises), the secondary tumour usually has similarities to the original tumour. These similarities in the cells can be seen by a pathologist examining tissue from the tumour under a microscope.

So, when a cancerous tumour is found that does not have characteristics common to cancers from that part of the body, it is usually thought to be a metastasis – cancer that has spread from another cancer elsewhere in the body. When the original site of cancer cannot be identified this is called Cancer of the Unknown Primary (CUP).

Professor Sean Grimmond is Director of the University of Melbourne Centre for Cancer Research at the Victorian Comprehensive Cancer Centre and his research is focused on cancers of unmet need; these are cancers where the survival rate is poor or treatment options are limited. Cancer of the unknown primary falls in this group.

According to Cancer Council Australia, CUP is the fifth most common cause of cancer death in men, and fourth in women.

This means CUP causes more deaths than melanoma or leukaemia.

One reason CUP has a high mortality rate is that it is so difficult to target treatment.

Prof Grimmond says, “In these cases, choosing a drug just based on the tissue of origin can be like guesswork.”

Fortunately, advances in genomic sequencing and scientists’ understanding of cancer DNA are helping to shape new methods for testing and treatment of CUP.

At the VCCC researchers are using genomic sequencing techniques to help patients with difficult to treat cancers.

Prof Grimmond explains: “We want to move from using the microscope for this type of diagnostic to using DNA, because the pattern you see in the DNA can be used to infer the organ of origin.

Also the damage to the DNA in the tumour reflects what type of event triggered the mutation in the DNA that led to cancer developing; whether it’s UV light or smoking or old age. So if you’re looking at a patient that has a cancer of the unknown primary in their pancreas, but you can see a pattern that reflects UV damage, you would start to think that skin could be the origin.”

This research could lead to the development of new specialised pathology tests for CUP patients to help quickly determine the original cause of their cancers, enabling targeted treatment faster.

“This could improve the time to treatment drastically and offer hope for patients where current treatment options are very limited,” says Prof Grimmond.

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• CRISPR is a gene editing technology with enormous potential to cure disease

• CRISPR technology has prompted international debate due to its ability to alter DNA in human embryos

• Genome correction of embryos is illegal in Australia but scientists want the laws to be changed

Science is experiencing a golden age in gene editing thanks to a new technology called CRISPR, credited with potential applications in everything from gene therapy and drug research to diagnosing viruses.

CRISPR works as a type of molecular scissors by combining a DNA-cutting enzyme with a molecular guide that can selectively trim away unwanted parts of the genome and replace it with new stretches of DNA.

In 2015, CRISPR was named breakthrough of the year however its application in medicine is subject to much debate.

In August 2017, CRISPR technology attracted global media attention after scientists in the US and Korea successfully freed embryos of a piece of faulty DNA that causes deadly heart disease to run in families. This discovery could potentially open the door to preventing 10,000 disorders that are passed down the generations.

In the study, the genetic repair happened during conception. Sperm from a man with hypertrophic cardiomyopathy was injected into healthy donated eggs alongside CRISPR technology to correct the defect. Although it did not work all the time, 72% of embryos were free from disease-causing mutations.^[1]

Dr Shoukhrat Mitalipov, a key figure in the research team, said: “Every generation on would carry this repair because we’ve removed the disease-causing gene variant from that family’s lineage. By using this technique, it’s possible to reduce the burden of this heritable disease on the family and eventually the human population.”

Ethical concerns

While the UK, Sweden and North America press forward on research involving human embryos, genome correction of human embryos is currently illegal in Australia. Scientists have pushed for a relaxation of these laws but opinion is divided.

Dr Sara Howden, Senior Research Officer and Gene Editing Core Facility Director at Murdoch Childrens Research Institute says the technology raises concerns about the creation of unintended DNA changes that are inherited by future generations:

“CRISPR/Cas9 is still a very new technology and most experts in the field would agree that we must be very cautious about using this technology to create lasting changes that are passed on to subsequent generations as this could have undesirable and unpredictable consequences. Further studies are needed, even those using human embryos that would otherwise be discarded, to fully evaluate its safety and address its potential risks.”

Professor John Rasko, Head of the Gene and Stem Cell Therapy Program, Centenary Institute, believes the law should be changed to allow embryonic editing in research settings:

“Extensive research from the UK indicates that CRISPR is a safe and effective tool for genomic editing. The technology is advanced enough to be used in Australian research settings and I think the law should reflect this. While I support embryonic editing, it’s important to note that very few diseases can be cured through this method. Most hereditary illnesses can be detected and managed using pathology tests such as pre-natal blood tests and IVF screening.”

NSW Stem Cell Network regularly holds events for the scientific community to discuss the risks and benefits of genomic editing.  In March, the organisation publicly called on regulators to consider changing Australian laws to permit some gene editing of embryos for therapeutic purposes.

Embryonic editing is an increasingly pertinent issue for Australian scientists and more discussion is needed to evaluate its ethical, legal and social implications. With further campaigning from universities and scientific institutes, it is likely that genomic editing could be available by 2020.

^[1] BBC News – Human embryos edited to stop disease

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Fortunately, genetic variations are not all bad news, there are ways in which they can have positive effects and scientists are constantly learning more about our genes that could help inform new tests and treatments.

Here are a few examples of some genetic discoveries that could have a future impact on our health.

Unbreakable bones – the LRP5 gene

Scientists have been aware for some time that a mutation in the LRP5 gene that regulates bone density could cause low bone density, making bones weaker.

However, a different mutation in the LRP5 gene can also cause an uncommon disorder in which bone density is greatly increased making the bones very strong and resistant to fractures. Scientists at Yale who were working on different patients discovered that they had the same unusual trait of dense bones; when comparing notes and looking at the patients’ family tree, they worked out these were different members of one extended family. Through blood samples provided by 20 family members and DNA mapping they discovered a gene mutation in LRP5 that was causing the ‘unbreakable’ bones.

Research is ongoing in this area but it is hoped that knowing more about this gene could help researchers find better treatment for conditions affecting the bones including osteoporosis.

HIV resistance inherited from plague survivors

A mutation in the CCR5 gene known as CCR5-delta32 is associated with resistance to HIV infection. The mutation is not common but is seen more often in people of European descent.

Researchers at the University of Liverpool in the UK found this resistance was likely to have been developed due to ancestors in northern Europe who survived the ‘plagues’ of the Middle Ages. Despite the name, these plagues were not the bubonic plague (an illness that was bacterial not viral) but were epidemics of a severe, viral haemorrhagic fever that swept across Europe for 300 years from the mid-1300s.

The virus is thought to have used the CCR5 gene as the entry point into the immune system, acting in a similar way to HIV, which is the reason the CCR5-delta32 mutation, that blocks entry of the virus, allowed some Europeans to survive the deadly fever and pass on their genes to subsequent generations.

This knowledge could contribute to a cure for HIV and researchers are investigating how the CCR5-delta32 mutation could be used along with stem cell transplant technology to treat people with HIV.

The malaria protection puzzle

Scientists have known for a while that some people are naturally resistant to malaria and that resistance has a genetic cause.

The latest research comes from a recent study that compared genomic data from over 700 hundred people in Africa to genomes from the 1000 Genomes project as well as 4500 people with severe malaria who had previously had their genomes sequenced.

They found that differences in the GYPA and GYPB genes were present in many of those from eastern African nations but were not present in West Africa. These variations lead to an increase in malaria resistance of around 40%.

Other genes also offer malaria resistance. The HbC gene that affects haemoglobin (a protein in the blood carrying oxygen) has also been found to give protection against malaria. A single copy of the gene offers around 29% protection, but 2 copies gives around 93% protection.

As with the GYPA and GYPB genetic mutations, there are questions over why this protective genetic trait is not more common in Africa, particularly in regions badly affected by malaria. It could be that these are relatively new mutations which only began to appear shortly before the research was conducted. It could also be that there is some sort of negative effect of these mutations that limits how readily they are passed on.

Another piece of the puzzle is the HbS mutation which is common in sub-Saharan Africa; a single copy of the gene offers significant malaria protection. However, 2 copies cause sickle cell anaemia, a disease that shortens life expectancy and has a host of complications including stroke and organ damage. The seriousness of the disease means that scientists would expect the gene mutation to be less common than the HbS mutation, because higher rates of illness and mortality would make it less likely to be passed on.

All of this information can help scientists to better understand the devastating effects of malaria and to fight it more effectively.

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What is Lynch syndrome?

Lynch syndrome is an inherited genetic mutation that means a person has an increased chance of developing certain cancers during their lifetime, often at a younger age than the general population.

The genes in question are mismatch repair (MMR) genes including MLH1, MSH2, MSH6, PMS2, and EPCAM-TACSTD1. These genes are responsible for fixing mistakes made when DNA is copied to prepare for cell division, which is part of the body’s everyday repair and growth mechanism.

Usually a person will inherit two working copies of these genes, one from each parent. People with Lynch syndrome inherit a working copy and a non-working copy.

The defects in the MMR genes mean that copied DNA can contain mistakes – as cells divide, these errors accumulate and uncontrollable cell growth may lead to cancer.

Many cancers are associated with Lynch syndrome, including ovarian, stomach and pancreatic cancer. The most common cancers associated with the condition, however, are bowel cancer and endometrial cancer.

Pathology testing

Lynch syndrome is diagnosed via a blood test. It is an inherited condition and parents with Lynch syndrome have a 50% chance of passing the condition on to their children. Lynch syndrome cannot skip a generation so if a child does not inherit it, they cannot pass it on to their own children.

Risk factors, aside from a family history of Lynch syndrome, is a strong family history of cancer occurring at a younger than normal age such as below age 50. The first step in being tested is to speak to a doctor about your family history of cancer. If appropriate, a doctor will refer patients for genetic counselling and testing.

Lynch Syndrome Australia advises using their “3,2,1 rule” to help people decide if they are at risk:

3 or more family members (including you) have been diagnosed with a Lynch syndrome associated cancer.

2 consecutive generations or more are affected.

1 affected family member is diagnosed with a Lynch syndrome associated cancer before 50 years of age.

Benefits of testing

It is an individual decision whether or not to be tested for Lynch syndrome but a diagnosis can help someone to manage their cancer risk and can potentially help family members.

If deemed at risk, a person will be referred to a specialist service such as a hereditary cancer centre. A genetic counsellor talks through the options and answers any questions to help someone make their decision about getting tested.

If diagnosed, depending on which gene mutation someone has, enhanced monitoring or preventative procedures may be offered. For example, for people with an MLH1 or MSH2 gene mutation, annual colonoscopy is recommended from age 25, or age 30 if the mutation is in the MSH6 or PMS2 gene. For women with a TAH-BSO mutation, hysterectomy and oophorectomy (removing the ovaries) is recommended before the age of 40.

Lynch syndrome can also mean that cancer advances more quickly, so a diagnosis can help someone catch cancer earlier giving a better chance of successful treatment.

As people with Lynch syndrome are more susceptible to cancer at a younger age, a diagnosis can affect some life decisions, in particular for women of child-bearing age.

Lynch Syndrome Australia is committed to raising awareness about the condition so that early diagnosis can help people be better informed and make choices about their health and their future.

The post Little-known Lynch Syndrome increases cancer risk for thousands of Australians first appeared on Know Pathology Know Healthcare.

All eating disorders can have serious consequences, and because of the typical symptoms of fear of weight gain and severely restricted eating, untreated anorexia is associated with devastating physical consequences and has a high mortality rate. The condition can affect people of any age but the most severe illness commonly occurs in the 20-45 year age group, and the disease is more common in women.²

Anorexia is often viewed as a condition based largely on external factors such as media and advertising featuring unrealistic images of the body. However in many cases the role of these external factors including trauma, abuse or societal pressure is to trigger the disease in a person who may be predisposed to anorexia because of their genetics.

It has long been known that family history is a risk factor for anorexia but a large global study has now been able to better pinpoint contributing factors.

Researchers at the University of North Carolina (pictured above) collaborated with institutions across the US and Europe bringing together 220 scientists to analyse genomic data from 3,495 people with anorexia nervosa and 10,982 unaffected people.

The researchers found genetic variations on chromosome 12 that were common to the participants with anorexia – this region of chromosome 12 is also associated with Type 1 diabetes and autoimmune disorders.²

Investigators also found genetic correlations with certain metabolic factors including a person’s Body Mass Index (BMI) and their insulin-glucose metabolism.

There are currently no drug treatments specifically for anorexia. Greater understanding of factors that contribute to a person’s risk of developing anorexia is important in developing effective treatments; either new therapies or existing drugs used for other conditions.

Lead Investigator Professor Cynthia Bulik from University of North Carolina said:

“Anorexia is a devastating illness and is not well understood in the community. This research is a big step in pinpointing where predisposition to the disease begins and encourages us to look more deeply at how metabolic factors increase the risk for anorexia. We want to find ways to target treatment and data like this is a key part of that process.”

Prof Bulik leads the Anorexia Nervosa Genetics Initiative (ANGI) which has joined with a project called AN25K, collecting 25,000 blood samples from people across the globe who have been diagnosed with anorexia nervosa.

Large sample sizes are critical when looking at the genetics of psychiatric illnesses as many genes may be involved in disease risk.

More research is needed but these latest findings mean that genetic testing could one day be part of guiding effective treatment for people with anorexia.

¹ https://www.eatingdisorders.org.au/key-research-a-statistics

² https://ajp.psychiatryonline.org/doi/full/10.1176/appi.ajp.2017.16121402?journalCode=ajp

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