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.

As many of us hit the gym or go for a run to recover from the silly season, you might notice a bit of extra muscle soreness.

This is especially true if it has been a while between workouts.

A common misunderstanding is that such soreness is due to lactic acid build-up in the muscles.

Research, however, shows lactic acid has nothing to do with it. The truth is far more interesting, but also a bit more complex.

It’s not lactic acid

We’ve known for decades that lactic acid has nothing to do with muscle soreness after exercise.

In fact, as one of us (Robert Andrew Robergs) has long argued, cells produce lactate, not lactic acid. This process actually opposes not causes the build-up of acid in the muscles and bloodstream.

Unfortunately, historical inertia means people still use the term “lactic acid” in relation to exercise.

Lactate doesn’t cause major problems for the muscles you use when you exercise. You’d probably be worse off without it due to other benefits to your working muscles.

Lactate isn’t the reason you’re sore a few days after upping your weights or exercising after a long break.

So, if it’s not lactic acid and it’s not lactate, what is causing all that muscle soreness?

Muscle pain during and after exercise

When you exercise, a lot of chemical reactions occur in your muscle cells. All these chemical reactions accumulate products and by-products which cause water to enter into the cells.

That causes the pressure inside and between muscle cells to increase.

This pressure, combined with the movement of molecules from the muscle cells can stimulate nerve endings and cause discomfort during exercise.

The pain and discomfort you sometimes feel hours to days after an unfamiliar type or amount of exercise has a different list of causes.

If you exercise beyond your usual level or routine, you can cause microscopic damage to your muscles and their connections to tendons.

Such damage causes the release of ions and other molecules from the muscles, causing localised swelling and stimulation of nerve endings.

This is sometimes known as “delayed onset muscle soreness” or DOMS.

While the damage occurs during the exercise, the resulting response to the injury builds over the next one to two days (longer if the damage is severe). This can sometimes cause pain and difficulty with normal movement.

The upshot

Research is clear; the discomfort from delayed onset muscle soreness has nothing to do with lactate or lactic acid.

The good news, though, is that your muscles adapt rapidly to the activity that would initially cause delayed onset muscle soreness.

So, assuming you don’t wait too long (more than roughly two weeks) before being active again, the next time you do the same activity there will be much less damage and discomfort.

If you have an exercise goal (such as doing a particular hike or completing a half-marathon), ensure it is realistic and that you can work up to it by training over several months.

Such training will gradually build the muscle adaptations necessary to prevent delayed onset muscle soreness. And being less wrecked by exercise makes it more enjoyable and more easy to stick to a routine or habit.

Finally, remove “lactic acid” from your exercise vocabulary. Its supposed role in muscle soreness is a myth that’s hung around far too long already.

Robert Andrew Robergs, Associate Professor – Exercise Physiology, Queensland University of Technology and Samuel L. Torrens, PhD Candidate, Queensland University of Technology

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