Mitochondria are tiny structures in cells that convert the food we eat into the energy our cells need to function.

Mitochondrial disease (or mito for short) is a group of conditions that affect this ability to generate the energy organs require to work properly. There are many different forms of mito and depending on the form, it can disrupt one or more organs and can cause organ failure.

There is no cure for mito. But an IVF procedure called mitochondrial donation now offers hope to families affected by some forms of mito that they can have genetically related children free from mito.

After a law to allow mitochondrial donation in Australia was passed in 2022, scientists are now preparing for a clinical trial to see if mitochondrial donation is safe and works.

What is mitochondrial disease?

There are two types of mitochondrial disease.

One is caused by faulty genes in the nuclear DNA, the DNA we inherit from both our parents and which makes us who we are.

The other is caused by faulty genes in the mitochondria’s own DNA. Mito caused by faulty mitochondrial DNA is passed down through the mother. But the risk of disease is unpredictable, so a mother who is only mildly affected can have a child who develops serious disease symptoms.

Mitochondrial disease is the most common inherited metabolic condition affecting one in 5,000 people.

Some people have mild symptoms that progress slowly, while others have severe symptoms that progress rapidly. Mito can affect any organ, but organs that need a lot of energy such as brain, muscle and heart are more often affected than other organs.

Mito that manifests in childhood often involves multiple organs, progresses rapidly, and has poor outcomes. Of all babies born each year in Australia, around 60 will develop life-threatening mitochondrial disease.

What is mitochondrial donation?

Mitochondrial donation is an experimental IVF-based technique that offers people who carry faulty mitochondrial DNA the potential to have genetically related children without passing on the faulty DNA.

It involves removing the nuclear DNA from the egg of someone who carries faulty mitochondrial DNA and inserting it into a healthy egg donated by someone not affected by mito, which has had its nuclear DNA removed.

The resulting egg has the nuclear DNA of the intending parent and functioning mitochondria from the donor. Sperm is then added and this allows the transmission of both intending parents’ nuclear DNA to the child.

A child born after mitochondrial donation will have genetic material from the three parties involved: nuclear DNA from the intending parents and mitochondrial DNA from the egg donor. As a result the child will likely have a reduced risk of mito, or no risk at all.

This highly technical procedure requires specially trained scientists and sophisticated equipment. It also requires both the person with mito and the egg donor to have hormone injections to stimulate the ovaries to produce multiple eggs. The eggs are then retrieved in an ultrasound-guided surgical procedure.

Mitochondrial donation has been pioneered in the United Kingdom where a handful of babies have been born as a result. To date there have been no reports about whether they are free of mito.

Maeve’s Law

After three years of public consultation The Mitochondrial Donation Law Reform (Maeve’s Law) Bill 2021 was passed in the Australian Senate in 2022, making mitochondrial donation legal in a research and clinical trial setting.

Maeve’s law stipulates strict conditions including that clinics need a special licence to perform mitochondrial donation.

To make sure mitochondrial donation works and is safe before it’s introduced into Australian clinical practice, the law also specifies that initial licences will be issued for pre-clinical and clinical trial research and training.

We’re expecting one such licence to be issued for the mitoHOPE (Healthy Outcomes Pilot and Evaluation) program, which we are part of, to perfect the technique and conduct a clinical trial to make sure mitochondrial donation is safe and effective.

Before starting the trial, a preclinical research and training program will ensure embryologists are trained in “real-life” clinical conditions and existing mitochondrial donation techniques are refined and improved. To do this, many human eggs are needed.

The need for donor eggs

One of the challenges with mitochondrial donation is sourcing eggs. For the preclinical research and training program, frozen eggs can be used, but for the clinical trial “fresh” eggs will be needed.

One possible source of frozen eggs is from people who have stored eggs they don’t intend to use.

A recent study looked at data on the outcomes of eggs stored at a Melbourne clinic from 2012 to 2021. Over the ten-year period, 1,132 eggs from 128 patients were discarded. No eggs were donated to research because the clinics where the eggs were stored did not conduct research requiring donor eggs.

However, research shows that among people with stored eggs, the number one choice for what to do with eggs they don’t need is to donate them to research.

This offers hope that, given the opportunity, those who have eggs stored that they don’t intend to use might be willing to donate them to mitochondrial donation preclinical research.

As for the “fresh” eggs needed in the future clinical trial, this will require individuals to volunteer to have their ovaries stimulated and eggs retrieved to give those people impacted by mito a chance to have a healthy baby. Egg donors may be people who are friends or relatives of those who enter the trial, or it might be people who don’t know someone affected by mito but would like to help them conceive.

At this stage, the aim is to begin enrolling participants in the clinical trial in the next 12 to 18 months. However this may change depending on when the required licences and ethics approvals are granted.

Karin Hammarberg, Senior Research Fellow, Global and Women’s Health, School of Public Health & Preventive Medicine, Monash University; Catherine Mills, Professor of Bioethics, Monash University; Mary Herbert, Professor, Anatomy & Developmental Biology, Monash University, and Molly Johnston, Research fellow, Monash Bioethics Centre, Monash University

This article is republished from The Conversation under a Creative Commons license. Read the original article.

While you’re likely familiar with type 1 and type 2 diabetes, you’ve probably heard less about type 1.5 diabetes.

Also known as latent autoimmune diabetes in adults (LADA), type 1.5 diabetes has features of both type 1 and type 2 diabetes.

More people became aware of this condition after Lance Bass, best known for his role in the iconic American pop band NSYNC, recently revealed he has it.

So, what is type 1.5 diabetes? And how is it diagnosed and treated?

There are several types of diabetes

Diabetes mellitus is a group of conditions that arise when the levels of glucose (sugar) in our blood are higher than normal. There are actually more than ten types of diabetes, but the most common are type 1 and type 2.

Type 1 diabetes is an autoimmune condition where the body’s immune system attacks and destroys the cells in the pancreas that make the hormone insulin. This leads to very little or no insulin production.

Insulin is important for moving glucose from the blood into our cells to be used for energy, which is why people with type 1 diabetes need insulin medication daily. Type 1 diabetes usually appears in children or young adults.

Type 2 diabetes is not an autoimmune condition. Rather, it happens when the body’s cells become resistant to insulin over time, and the pancreas is no longer able to make enough insulin to overcome this resistance. Unlike type 1 diabetes, people with type 2 diabetes still produce some insulin.

Type 2 is more common in adults but is increasingly seen in children and young people. Management can include behavioural changes such as nutrition and physical activity, as well as oral medications and insulin therapy.

How does type 1.5 diabetes differ from types 1 and 2?

Like type 1 diabetes, type 1.5 occurs when the immune system attacks the pancreas cells that make insulin. But people with type 1.5 often don’t need insulin immediately because their condition develops more slowly. Most people with type 1.5 diabetes will need to use insulin within five years of diagnosis, while those with type 1 typically require it from diagnosis.

Type 1.5 diabetes is usually diagnosed in people over 30, likely due to the slow progressing nature of the condition. This is older than the typical age for type 1 diabetes but younger than the usual diagnosis age for type 2.

Type 1.5 diabetes shares genetic and autoimmune risk factors with type 1 diabetes such as specific gene variants. However, evidence has also shown it may be influenced by lifestyle factors such as obesity and physical inactivity which are more commonly associated with type 2 diabetes.

What are the symptoms, and how is it treated?

The symptoms of type 1.5 diabetes are highly variable between people. Some have no symptoms at all. But generally, people may experience the following symptoms:

• increased thirst
• frequent urination
• fatigue
• blurred vision
• unintentional weight loss.

Typically, type 1.5 diabetes is initially treated with oral medications to keep blood glucose levels in normal range. Depending on their glucose control and the medication they are using, people with type 1.5 diabetes may need to monitor their blood glucose levels regularly throughout the day.

When average blood glucose levels increase beyond normal range even with oral medications, treatment may progress to insulin. However, there are no universally accepted management or treatment strategies for type 1.5 diabetes.

Type 1.5 diabetes is often misdiagnosed

Lance Bass said he was initially diagnosed with type 2 diabetes, but later learned he actually has type 1.5 diabetes. This is not entirely uncommon. Estimates suggest type 1.5 diabetes is misdiagnosed as type 2 diabetes 5–10% of the time.

There are a few possible reasons for this.

First, accurately diagnosing type 1.5 diabetes, and distinguishing it from other types of diabetes, requires special antibody tests (a type of blood test) to detect autoimmune markers. Not all health-care professionals necessarily order these tests routinely, either due to cost concerns or because they may not consider them.

Second, type 1.5 diabetes is commonly found in adults, so doctors might wrongly assume a person has developed type 2 diabetes, which is more common in this age group (whereas type 1 diabetes usually affects children and young adults).

Third, people with type 1.5 diabetes often initially make enough insulin in the body to manage their blood glucose levels without needing to start insulin medication. This can make their condition appear like type 2 diabetes, where people also produce some insulin.

Finally, because type 1.5 diabetes has symptoms that are similar to type 2 diabetes, it may initially be treated as type 2.

We’re still learning about type 1.5

Compared with type 1 and type 2 diabetes, there has been much less research on how common type 1.5 diabetes is, especially in non-European populations. In 2023, it was estimated type 1.5 diabetes represented 8.9% of all diabetes cases, which is similar to type 1. However, we need more research to get accurate numbers.

Overall, there has been a limited awareness of type 1.5 diabetes and unclear diagnostic criteria which have slowed down our understanding of this condition.

A misdiagnosis can be stressful and confusing. For people with type 1.5 diabetes, being misdiagnosed with type 2 diabetes might mean they don’t get the insulin they need in a timely manner. This can lead to worsening health and a greater likelihood of complications down the road.

Getting the right diagnosis helps people receive the most appropriate treatment, save money, and reduce diabetes distress. If you’re experiencing symptoms you think may indicate diabetes, or feel unsure about a diagnosis you’ve already received, monitor your symptoms and chat with your doctor.

Emily Burch, Accredited Practising Dietitian and Lecturer, Southern Cross University and Lauren Ball, Professor of Community Health and Wellbeing, The University of Queensland

This article is republished from The Conversation under a Creative Commons license. Read the original article.