What is mitochondrial donation? And how might it help people have a healthy baby one day?

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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.

Jonathan Borba/Pexels

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 donor egg (in blue) has had its nuclear DNA removed. Author provided

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.

Pregnant woman reads in bed
The procedure removes the faulty DNA to reduce the chance of it passing on to the baby. Josh Willink/Pexels

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.

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  • Stretching Scientifically – by Thomas Kurz

    10almonds is reader-supported. We may, at no cost to you, receive a portion of sales if you purchase a product through a link in this article.

    People stretching incorrectly can, even if they don’t injure themselves, lose countless hours for negligible flexibility gains, and put the failure down to their body rather than the method. You can have better.

    This book’s all about what works, and not only that, but what works with specific goals in mind, beyond the generic “do the splits” and “touch your toes” etc, which are laudable goals but quite basic. A lot of the further goals he has in mind have to do not just with flexibility, but also functional dynamic strength and mobility, because it’s of less versatile use to have the flexibility only to get folded like laundry and not actually actively do the things you want to.

    He does also cover “regardless of age”, so no more worrying that you should have been trained for the ballet when you were eight and now all is lost. It isn’t.

    As for the writing style… The author, a physical fitness and rehabilitation coach and writer, wrote this book while at the Academy of Physical Education in Warsaw during the Soviet period, and it shows. It is very much straight-to-the-point, no nonsense, no waffle. Everything is direct and comes with a list of research citations and clear instructions.

    Bottom line: if you’ve been trying to improve your flexibility and not succeeding, let this old Soviet instructor have a go.

    Click here to check out Stretching Scientifically, and stretch scientifically!

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  • How to Eat to Change How You Drink – by Dr. Brooke Scheller

    10almonds is reader-supported. We may, at no cost to you, receive a portion of sales if you purchase a product through a link in this article.

    Whether you want to stop drinking or just cut down, this book can help. But what makes it different from the other reduce/stop drinking books we’ve reviewed?

    Mostly, it’s about nutrition. This book focuses on the way that alcohol changes our relationship to food, our gut, our blood sugars, and more. The author also explains how reducing/stopping drinking, without bearing these things in mind, can be unnecessarily extra hard.

    The remedy? To bear them in mind, of course, but that requires knowing them. So what she does is explain the physiology of what’s going on in terms of each of the above things (and more), and how to adjust your diet to make up for what alcohol has been doing to you, so that you can reduce/quit without feeling constantly terrible.

    The style is very pop-science, light in tone, readable. She makes reference to a lot of hard science, but doesn’t discuss it in more depth than is necessary to convey the useful information. So, this is a practical book, aimed at all people who want to reduce/quit drinking.

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  • Lost for words? Research shows art therapy brings benefits for mental health

    10almonds is reader-supported. We may, at no cost to you, receive a portion of sales if you purchase a product through a link in this article.

    Creating art for healing purposes dates back tens of thousands of years, to the practices of First Nations people around the world. Art therapy uses creative processes, primarily visual art such as painting, drawing or sculpture, with a view to improving physical health and emotional wellbeing.

    When people face significant physical or mental ill-health, it can be challenging to put their experiences into words. Art therapists support people to explore and process overwhelming thoughts, feelings and experiences through a reflective art-making process. This is distinct from art classes, which often focus on technical aspects of the artwork, or the aesthetics of the final product.

    Art therapy can be used to support treatment for a wide range of physical and mental health conditions. It has been linked to benefits including improved self-awareness, social connection and emotional regulation, while lowering levels of distress, anxiety and even pain scores.

    In a study published this week in the Journal of Mental Health, we found art therapy was associated with positive outcomes for children and adolescents in a hospital-based mental health unit.

    An option for those who can’t find the words

    While a person’s engagement in talk therapies may sometimes be affected by the nature of their illness, verbal reflection is optional in art therapy.

    Where possible, after finishing an artwork, a person can explore the meaning of their work with the art therapist, translating unspoken symbolic material into verbal reflection.

    However, as the talking component is less central to the therapeutic process, art therapy is an accessible option for people who may not be able to find the words to describe their experiences.

    Art therapy has supported improved mental health outcomes for people who have experienced trauma, people with eating disorders, schizophrenia and dementia, as well as children with autism.

    Art therapy has also been linked to improved outcomes for people with a range of physical health conditions. These include lower levels of anxiety, depression and fatigue among people with cancer, enhanced psychological stability for patients with heart disease, and improved social connection among people who have experienced a traumatic brain injury.

    Art therapy has been associated with improved mood and anxiety levels for patients in hospital, and lower pain, tiredness and depression among palliative care patients.

    A person painting.
    Studies suggest art therapy could support people with a range of health conditions. mojo cp/Shutterstock

    Our research

    Mental ill-health, including among children and young people, presents a major challenge for our society. While most care takes place in the community, a small proportion of young people require care in hospital to ensure their safety.

    In this environment, practices that place even greater restriction, such as seclusion or physical restraint, may be used briefly as a last resort to ensure immediate physical safety. However, these “restrictive practices” are associated with negative effects such as post-traumatic stress for patients and health professionals.

    Worryingly, staff report a lack of alternatives to keep patients safe. However, the elimination of restrictive practices is a major aim of mental health services in Australia and internationally.

    Our research looked at more than six years of data from a child and adolescent mental health hospital ward in Australia. We sought to determine whether there was a reduction in restrictive practices during the periods when art therapy was offered on the unit, compared to times when it was absent.

    We found a clear association between the provision of art therapy and reduced frequency of seclusion, physical restraint and injection of sedatives on the unit.

    We don’t know the precise reason for this. However, art therapy may have lessened levels of severe distress among patients, thereby reducing the risk they would harm themselves or others, and the likelihood of staff using restrictive practices to prevent this.

    A black tree sculpture made of clay, with pink and purple dots in the centre.
    This artwork was described by the young person who made it as a dead tree with new growth, representing a sense of hope emerging as they started to move towards their recovery. Author provided

    That said, hospital admission involves multiple therapeutic interventions including talk-based therapies and medications. Confirming the effect of a therapeutic intervention requires controlled clinical trials where people are randomly assigned one treatment or another.

    Although ours was an observational study, randomised controlled trials support the benefits of art therapy in youth mental health services. For instance, a 2011 hospital-based study showed reduced symptoms of post-traumatic stress disorder among adolescents randomised to trauma-focussed art therapy compared to a “control” arts and crafts group.

    A painting depicting a person crying.
    Artwork made by a young person during an art therapy session in an in-patient mental health unit. Author provided

    What do young people think?

    In previous research we found art therapy was considered by adolescents in hospital-based mental health care to be the most helpful group therapy intervention compared to other talk-based therapy groups and creative activities.

    In research not yet published, we’re speaking with young people to better understand their experiences of art therapy, and why it might reduce distress. One young person accessing art therapy in an acute mental health service shared:

    [Art therapy] is a way of sort of letting out your emotions in a way that doesn’t involve being judged […] It let me release a lot of stuff that was bottling up and stuff that I couldn’t explain through words.

    A promising area

    The burgeoning research showing the benefits of art therapy for both physical and especially mental health highlights the value of creative and innovative approaches to treatment in health care.

    There are opportunities to expand art therapy services in a range of health-care settings. Doing so would enable greater access to art therapy for people with a variety of physical and mental health conditions.

    Sarah Versitano, Academic, Master of Art Therapy Program, Western Sydney University and Iain Perkes, Senior Lecturer, Child and Adolescent Psychiatry, UNSW Sydney

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

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    10almonds is reader-supported. We may, at no cost to you, receive a portion of sales if you purchase a product through a link in this article.

    Fried rice is not most people’s go-to when one thinks of health food, but this one is. It’s packed with plenty of nutrients, many of which are anti-inflammatory, but the real star is the pineapple (with its high bromelain content and thus particularly potent benefits).

    You will need

    • 2½ cups cooked wholegrain basmati rice (you can use our Tasty Versatile Rice recipe if you don’t already have leftovers to use)
    • 1 cup pineapple chunks
    • ½ red onion, diced
    • 1 red bell pepper, diced
    • ½ cup sweetcorn
    • ½ peas
    • 3 green onions, chopped
    • 2 serrano peppers, chopped (omit if you don’t care for heat)
    • 2 tbsp coconut oil
    • 1 tbsp grated fresh ginger
    • 1 tbsp black pepper, coarse ground

    Method

    (we suggest you read everything at least once before doing anything)

    1) Fry the red onion, serrano peppers, and ginger in the coconut oil over a medium heat, stirring frequently, for about 3 minutes.

    2) Add the pineapple, bell pepper, sweetcorn, peas, and black pepper, stirring frequently, for about another 3 minutes.

    3) Add the rice, stirring gently but thoroughly, until fully reheated and mixed in.

    4) Serve, garnishing with the green onions.

    Enjoy!

    Want to learn more?

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  • Resistance Beyond Weights

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    Resistance, Your Way

    We’ve talked before about the importance of resistance training:

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    And we’ve even talked about how to make resistance training more effective:

    HIIT, But Make It HIRT

    (High Intensity Interval Training, but make it High Intensity Resistance Training)

    Which resistance training exercises are best?

    There are two reasonable correct answers here:

    1. The resistance training exercises that you will actually do (because it’s no good knowing the best exercise ever if you’re not going to do it because it is in some way offputting to you)
    2. The resistance training exercises that will prevent you from getting a broken bone in the event of some accident or incident

    This latter is interesting, because when people think resistance training, the usually immediate go-to exercises are often things like the bench press, or the chest machine in the gym.

    But ask yourself: how often do we hear about some friend or relative who in their old age has broken their humerus?

    It can happen, for sure, but it’s not as often as breaking a hip, a tarsal (ankle bones), or a carpal (wrist bones).

    So, how can we train to make those bones strong?

    Strong bones grow under strong muscles

    When archaeologists dig up a skeleton from a thousand years ago, one of the occupations that’s easy to recognize is an archer. Why?

    An archer has an unusual frequent exercise: pushing with their left arm while pulling with their right arm. This will strengthen different muscles on each side, and thus, increase bone density in different places on each arm. The left first metacarpal and right first and second metacarpals and phalanges are also a giveaway.

    This is because: one cannot grow strong muscles on weak bones (or else the muscles would just break the bones), so training muscles will force the body to strengthen the relevant bones.

    So: if you want strong bones, train the muscles attached to those bones

    This answers the question of “how am I supposed to exercise my hips” etc.

    Weights, bodyweight, resistance bands

    If you go to the gym, there’s a machine for everything, and a member of gym staff will be able to advise which of their machines will strengthen which muscles.

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    • The farmer’s walk (carrying a heavy weight in each hand) will also strengthen your wrist
      • A modified version of this involves holding the weight with just your fingertips, and then raising and lowering it by curling and uncurling your fingers)
    • Lateral leg raises (you will need ankle-weights for this) will strengthen your ankles and your hips, as will hip abductions (as in today’s featured video), especially with a weight attached.
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    If you don’t like weights:

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      • This same exercise can be done the other way around, by doing pull-ups
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    Remember, resistance training is still resistance training even if “all” you’re resisting is gravity!

    If it fells like work, then it’s working

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  • Lobster vs Crab – Which is Healthier?

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    Our Verdict

    When comparing lobster to crab, we picked the crab.

    Why?

    Generally speaking, most seafood is healthy in moderation (assuming it’s well-prepared, not poisonous, and you don’t have an allergy), and for most people, these two sea creatures are indeed considered a reasonable part of a healthy balanced diet.

    In terms of macros, they’re comparable in protein, and technically crab has about 2x the fat, but in both cases it’s next to nothing, so 2x almost nothing is still almost nothing. And, if we break down the lipids profiles, crab has a sufficiently smaller percentage of saturated fat (compared to monounsaturated and polyunsaturated), that crab actually has less saturated fat than lobster. In balance, the category of macros is either a tie or a slight win for crab, depending on your personal priorities.

    When it comes to vitamins, crab wins easily with more of vitamins A, B1, B2, B6, B9, B12, and C, in most cases by considerable margins (we’re talking multiples of what lobster has). Lobster, meanwhile, has more of vitamin B3 (tiny margin) and vitamin B5 (pantothenic acid, as in, the vitamin that’s in basically everything edible, and thus almost impossible to be deficient in unless literally starving).

    The minerals scene is more balanced; lobster has more calcium, copper, manganese, and selenium, while crab has more iron, magnesium, phosphorus, potassium, and zinc. The margins are comparable from one creature to another, so all in all the 4:5 score means a modest win for crab.

    Both of these creatures are good sources of omega-3 fatty acids, but crab is better.

    Lobster and crab are both somewhat high in cholesterol, but crab is the relatively lower of the two.

    In short: for most people most of the time, both are fine to enjoy in moderation, but if picking one, crab is the healthier by most metrics.

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    You might like to read:

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    Take care!

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