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.
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.
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Move – by Caroline Williams
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- Get 150 minutes of moderate exercise per week, says the American Heart Association
- There are over 10,000 minutes per week, says the pocket calculator
Is 150/10,000 really the goal here? Really?
For Caroline Williams, the answer is no.
In this book that’s practically a manifesto, she outlines the case that:
- Humans evolved to move
- Industrialization and capitalism scuppered that
- We now spend far too long each day without movement
Furthermore, for Williams this isn’t just an anthropological observation, it’s a problem to be solved, because:
- Our lack of movement is crippling us—literally
- Our stagnation affects not just our bodies, but also our minds
- (again literally—there’s a direct correlation with mental health)
- We urgently need to fix this
So, what now, do we need to move in to the gym and become full-time athletes to clock up enough hours of movement? No.
Williams convincingly argues the case (using data from supercentenarian “blue zones” around the world) that even non-exertive movement is sufficient. In other words, you don’t have to be running; walking is great. You don’t have to be lifting weights; doing the housework or gardening will suffice.
From that foundational axiom, she calls on us to find ways to build our life around movement… rather than production-efficiency and/or convenience. She gives plenty of tips for such too!
Bottom line: some books are “I couldn’t put it down!” books. This one’s more of a “I got the urge to get up and get moving!” book.
Get your get-up-and-go up and going with “Move”—order yours from Amazon today!
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The Great Cholesterol Myth, Revised and Expanded – by Dr. Jonny Bowden and Dr. Stephen Sinatra
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The topic of cholesterol, and saturated fat for that matter, is a complex and often controversial one. How does this book treat it?
With strong opinions, is how—but backed by good science. The authors, a nutritionist and a cardiologist, pull no punches about outdated and/or cherry-picked science, and instead make the case for looking at what, statistically speaking, appear to be the real strongest risk factors.
So, are they advocating for Dave Asprey-style butter-guzzling, or “the carnivore diet”? No, no they are not. Those things remain unhealthy, even if they give some short-term gains (of energy levels, weight loss, etc).
They do advocate, however, for enjoying saturated fats in moderation, and instead of certain polyunsaturated seed oils that do far worse. They also advocate strongly for avoiding sugar, stress, and (for different reasons) statins (in most people’s cases).
They also demystify in clear terms, and often with diagrams and infographics, the various kinds of fats and their components, broken down in far more detail than any other pop-science source this reviewer has seen.
Bottom line: if you want to take a scientific approach to heart health, this book can help you to focus on what will actually make the biggest difference.
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Edamame vs Soybeans – Which is Healthier?
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Our Verdict
When comparing edamame to soybeans, we picked the soybeans.
Why?
You may be thinking: aren’t edamame soybeans? And yes, yes they are. But just like our many instances of pitting Brassica oleracea vs Brassica oleracea (one species, many cultivars e.g. broccoli, cauliflower, kale, cabbage, Brussels sprouts, etc), there are still differences. In this case, edamame and soybeans aren’t even different cultivars, what are conventionally called edamame are just the young beans of the plant, while what are conventionally called soybeans are the mature beans of the plant.
The main nutritional difference is: as they get older, they lose vitamins and gain minerals. More on that later. But first, “main difference” isn’t “only difference”, so…
In terms of macros, edamame have more carbs, while soybeans have a little more fiber and a lot more protein. An easy win for the mature soybeans.
In the category of vitamins, edamame have more of vitamins A, B1, B3, B5, B9, C, E, K, and choline, while soybeans have more of vitamins B2 and B6. A clear win for edamame, this time.
When it comes to minerals, the nutritional tables are turned, and edamame have more manganese and zinc, while soybeans have more calcium, copper, iron, magnesium, phosphorus, potassium, and selenium. An easy win for soybeans.
Adding up the sections makes for a two-to-one victory for soybeans, but by all means enjoy either or both; diversity is good!
Want to learn more?
You might like to read:
What’s Your Plant Diversity Score?
Enjoy!
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Exercise, therapy and diet can all improve life during cancer treatment and boost survival. Here’s how
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With so many high-profile people diagnosed with cancer we are confronted with the stark reality the disease can strike any of us at any time. There are also reports certain cancers are increasing among younger people in their 30s and 40s.
On the positive side, medical treatments for cancer are advancing very rapidly. Survival rates are improving greatly and some cancers are now being managed more as long-term chronic diseases rather than illnesses that will rapidly claim a patient’s life.
The mainstays of cancer treatment remain surgery, chemotherapy, radiation therapy, immunotherapy, targeted therapy and hormone therapy. But there are other treatments and strategies – “adjunct” or supportive cancer care – that can have a powerful impact on a patient’s quality of life, survival and experience during cancer treatment.
PeopleImages.com – Yuri A/Shutterstock Keep moving if you can
Physical exercise is now recognised as a medicine. It can be tailored to the patient and their health issues to stimulate the body and build an internal environment where cancer is less likely to flourish. It does this in a number of ways.
Exercise provides a strong stimulus to our immune system, increasing the number of cancer-fighting immune cells in our blood circulation and infusing these into the tumour tissue to identify and kill cancer cells.
Our skeletal muscles (those attached to bone for movement) release signalling molecules called myokines. The larger the muscle mass, the more myokines are released – even when a person is at rest. However, during and immediately after bouts of exercise, a further surge of myokines is secreted into the bloodstream. Myokines attach to immune cells, stimulating them to be better “hunter-killers”. Myokines also signal directly to cancer cells slowing their growth and causing cell death.
Exercise can also greatly reduce the side effects of cancer treatment such as fatigue, muscle and bone loss, and fat gain. And it reduces the risk of developing other chronic diseases such as heart disease and type 2 diabetes. Exercise can maintain or improve quality of life and mental health for patients with cancer.
Emerging research evidence indicates exercise might increase the effectiveness of mainstream treatments such as chemotherapy and radiation therapy. Exercise is certainly essential for preparing the patient for any surgery to increase cardio-respiratory fitness, reduce systemic inflammation, and increase muscle mass, strength and physical function, and then rehabilitating them after surgery.
These mechanisms explain why cancer patients who are physically active have much better survival outcomes with the relative risk of death from cancer reduced by as much as 40–50%.
Mental health helps
The second “tool” which has a major role in cancer management is psycho-oncology. It involves the psychological, social, behavioural and emotional aspects of cancer for not only the patient but also their carers and family. The aim is to maintain or improve quality of life and mental health aspects such as emotional distress, anxiety, depression, sexual health, coping strategies, personal identity and relationships.
Supporting quality of life and happiness is important on their own, but these barometers can also impact a patient’s physical health, response to exercise medicine, resilience to disease and to treatments.
If a patient is highly distressed or anxious, their body can enter a flight or fight response. This creates an internal environment that is actually supportive of cancer progression through hormonal and inflammatory mechanisms. So it’s essential their mental health is supported.
Chemotherapy can be stressful on the body and emotional reserves. Shutterstock Putting the good things in: diet
A third therapy in the supportive cancer care toolbox is diet. A healthy diet can support the body to fight cancer and help it tolerate and recover from medical or surgical treatments.
Inflammation provides a more fertile environment for cancer cells. If a patient is overweight with excessive fat tissue then a diet to reduce fat which is also anti-inflammatory can be very helpful. This generally means avoiding processed foods and eating predominantly fresh food, locally sourced and mostly plant based.
Some cancer treatments cause muscle loss. Avoiding processed foods may help. Shutterstock Muscle loss is a side effect of all cancer treatments. Resistance training exercise can help but people may need protein supplements or diet changes to make sure they get enough protein to build muscle. Older age and cancer treatments may reduce both the intake of protein and compromise absorption so supplementation may be indicated.
Depending on the cancer and treatment, some patients may require highly specialised diet therapy. Some cancers such as pancreatic, stomach, esophageal, and lung cancer can cause rapid and uncontrolled drops in body weight. This is called cachexia and needs careful management.
Other cancers and treatments such as hormone therapy can cause rapid weight gain. This also needs careful monitoring and guidance so that, when a patient is clear of cancer, they are not left with higher risks of other health problems such as cardiovascular disease and metabolic syndrome (a cluster of conditions that boost your risk of heart disease, stroke and type 2 diabetes).
Working as a team
These are three of the most powerful tools in the supportive care toolbox for people with cancer. None of them are “cures” for cancer, alone or together. But they can work in tandem with medical treatments to greatly improve outcomes for patients.
If you or someone you care about has cancer, national and state cancer councils and cancer-specific organisations can provide support.
For exercise medicine support it is best to consult with an accredited exercise physiologist, for diet therapy an accredited practising dietitian and mental health support with a registered psychologist. Some of these services are supported through Medicare on referral from a general practitioner.
For free and confidential cancer support call the Cancer Council on 13 11 20.
Rob Newton, Professor of Exercise Medicine, Edith Cowan University
This article is republished from The Conversation under a Creative Commons license. Read the original article.
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Get On It! – by Jane Aronovitch, Miriane Taylor, & Colleen Craig
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Balance is important; without it, we die early. That’s quite a strong selling point for improving one’s balance, but why this book in particular?
This is—with one drawback—the best book of balance ball exercises we’ve seen. Notwithstanding the cover photo, many exercises do, by the way, involve standing on it with one or both feet, doing various kinds of squats, lunges, get-ups, and so forth. The ball (it’s not really a ball so much as an oblate hemisphere) can also be flipped and used the other way around, with a flat platform that will now wobble per your weight distribution, and train balance in different ways (dome-up trains large stabilizing muscles more; platform-up trains smaller stabilizing muscles more).
Indeed, that’s where the brand name Bosu, often stylized “BOSU”, comes from: both sides up!
So, what’s the drawback? Alas, the photos are black and white, which means in some cases they’re not as clear as they could be. Nothing that will prevent understanding the exercises, which are well-explained in any case, but it does mean that sometimes it’s necessary to look closely to see which leg is in front of the other for a given exercise, for example.
Still, with 80 different exercises it really does cover the whole body, and even gives workout program varieties for those who want that, including targeted to particular areas, e.g. lower body, core, upper body, or complete.
Bottom line: if you’d like to improve your balance (and have, or are willing to acquire, a balance ball like the Bosu), then this book will give you everything else you need in that regard.
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L-Theanine: What’s The Tea?
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L-Theanine: What’s The Tea?
We’ve touched previously on l-theanine, when this newsletter was new, and we had only a few hundred subscribers and the carefully organized format wasn’t yet what it is today.
So now it’s time to give this potent dietary compound / nutritional supplement the “Monday Research Review” treatment…
What is it?
L-theanine is an amino acid found in tea. The human body can’t produce it, and/but it’s not essential for humans. It does have a lot of benefits, though. See for example:
L-Theanine as a Functional Food Additive: Its Role in Disease Prevention and Health Promotion
How does it work?
L-theanine works by moderating and modulating the brain’s neurotransmitters.
This sounds fancy, but basically it means: it doesn’t actually add anything in the manner of a drug, but it changes how we use what we have naturally.
What does it do? Read on…
It increases mental focus
It has been believed that l-theanine requires the presence of caffeine to achieve this (i.e., it’s a combination-only effect). For example:
But as it turns out, when a group of researchers actually checked… This isn’t true, as Foxe et al. write:
❝We asked whether either compound alone, or both in combination, would affect performance of the task in terms of reduced error rates over time, and whether changes in alpha-band activity would show a relationship to such changes in performance. When treated with placebo, participants showed a rise in error rates, a pattern that is commonly observed with increasing time-on-task, whereas after caffeine and theanine ingestion, error rates were significantly reduced. The combined treatment did not confer any additional benefits over either compound alone, suggesting that the individual compounds may confer maximal benefits at the dosages employed❞
It promotes a calmly wakeful feeling of serenity
Those are not words typically found in biopharmaceutical literature, but they’re useful here to convey:
- L-theanine promotes relaxation without causing drowsiness
- L-theanine promotes mental alertness without being a stimulant
Here is where l-theanine really stands out from caffeine. If both substances promote mental focus, but one of them does it by making us “wired” and the other does it while simultaneously promoting calm, it makes the choice between them clearer!
Read more: L-theanine, a natural constituent in tea, and its effect on mental state
It relieves stress and anxiety
Building on from the above, but there’s more: l-theanine relieves stress and anxiety in people experiencing stressful situations, without any known harmful side effects… This is something that sets it apart from a lot of anxiolytic (antianxiety) drugs!
Here’s what a big systematic review of clinical trials had to say:
Theanine consumption, stress and anxiety in human clinical trials: A systematic review
L-theanine has other benefits too
We’ve talked about some of the most popular benefits of l-theanine, and we can’t make this newsletter too long, but research also suggests that it…
- Supports healthy weight management
- Reduces inflammation
- Supports immune health
- Helps fight cancer
- May extend lifespan ← this one’s a C. elegans study, but despite being a tiny worm, they actually function very similarly to humans on a cellular level; it’s why they’re used so much for anti-aging research
If you’re interested in this topic, we recommend also reading our previous article on l-theanine—pardon that we hadn’t really nailed down our style yet—but there’s a bunch of useful information about how l-theanine makes caffeine “better” in terms of benefits. We also talk dosage, and reference some other studies we didn’t have room to include today!
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