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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  • What Are Nootropics, Really?

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    What are nootropics, really?

    A nootropic is anything that functions as a cognitive enhancerin other words, improves our brainpower.

    These can be sensationalized as “smart drugs”, misrepresented excitingly in science fiction, meme-ified in the mundane (“but first, coffee”), and reframed entirely, (“exercise is the best nootropic”).

    So, clearly, “nootropics” can mean a lot of different things. Let’s look at some of the main categories…

    The neurochemical modulators

    These are what often get called “smart drugs”. They are literally drugs (have a chemical effect on the body that isn’t found in our diet), and they affect the levels of certain neurotransmitters in the brain, such as by:

    • Adding more of that neurotransmitter (simple enough)
    • Decreasing the rate at which we lose that neurotransmitter (re-uptake inhibitors)
    • Antagonizing an unhelpful neurotransmitter (doing the opposite thing to it)
    • Blocking an unhelpful neurotransmitter (stopping the receptors from receiving it)

    “Unhelpful” here is relative and subjective, of course. We need all the neurotransmitters that are in our brain, after all, we just don’t need all of them all the time.

    Examples: modafinil, a dopamine re-uptake inhibitor (mostly prescribed for sleep disorders), reduces the rate at which our brains scrub dopamine, resulting in a gradual build-up of dopamine that we naturally produced, so we get to enjoy that dopamine for longer. This will tend to promote wakefulness, and may also help with problem-solving and language faculties—as well as giving a mood boost. In other words, all things that dopamine is used for. Mirtazaрine, an adrenoreceptor agonist (mostly prescribed as an antidepressant), increases noradrenergic neurotransmission, thus giving many other brain functions a boost.

    Why it works: our brains need healthy levels of neurotransmitters, in order to function well. Those levels are normally self-regulating, but can become depleted in times of stress or fatigue, for example.

    The metabolic brain boosters

    These are the kind of things that get included in nootropic stacks (stack = a collection of supplements and/or drugs that complement each other and are taken together—for example, a multivitamin tablet could be described as a vitamin stack) even though they have nothing specifically relating them to brain function. Why are they included?

    The brain needs so much fuel. Metabolically speaking, it’s a gas-guzzler. It’s the single most resource-intensive organ of our body, by far. So, metabolic brain boosters tend to:

    • Increase blood flow
    • Increase blood oxygenation
    • Increase blood general health
    • Improve blood pressure (this is relative and subjective, since very obviously there’s a sweet spot)

    Examples: B-vitamins. Yep, it can be that simple. A less obvious example might be Co-enzyme Q10, which supports energy production on a cellular level, and good cardiovascular health.

    Why it works: you can’t have a healthy brain without a healthy heart!

    We are such stuff as brains are made of

    Our brains are made of mostly fat, water, and protein. But, not just any old fat and protein—we’re at least a little bit special! So, brain-food foods tend to:

    • Give the brain the fats and proteins it’s made of
    • Give the brain the stuff to make the fats and proteins it’s made of (simpler fats, and amino acids)
    • Give the brain hydration! Just having water, and electrolytes as appropriate, does this

    Examples: healthy fats from nuts, seeds, and seafood; also, a lot of phytonutrients from greens and certain fruits. Long-time subscribers may remember our article “Brain Food: The Eyes Have It!” on the importance of dietary lutein in reducing Alzheimer’s risk, for example

    Why it works: this is matter of structural upkeep and maintenance—our brains don’t work fabulously if deprived of the very stuff they’re made of! Especially hydration is seriously underrated as a nootropic factor, by the way. Most people are dehydrated most of the time, and the brain dehydrates quickly. Fortunately, it rehydrates quickly as well when we take hydrating liquids.

    Weird things that sound like ingredients in a witch’s potion

    These are too numerous and too varied in how they work to cover here, but they do appear a lot in nootropic stacks and in popular literature on the subject.

    Often they work by one of the mechanisms described above; sometimes we’re not entirely sure how they work, and have only measured their effects sufficiently to know that, somehow, they do work.

    Examples: panax ginseng is one of the best-studied examples that still remains quite mysterious in many aspects of its mechanism. Lion’s Mane (the mushroom, not the jellyfish or the big cat hairstyle), meanwhile, is known to contain specific compounds that stimulate healthy brain cell growth.

    Why it works: as we say, it varies so much from on ingredient to another in this category, so… Watch out for our Research Review Monday features, as we’ll be covering some of these in the coming weeks!

    (PS, if there’s any you’d like us to focus on, let us know! We always love to hear from you. You can hit reply to any of our emails, or use the handy feedback widget at the bottom)

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  • Chipotle Chili Wild Rice

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    This is a very gut-healthy recipe that’s also tasty and filling, and packed with polyphenols too. What’s not to love?

    You will need

    • 1 cup cooked wild rice (we suggest cooking it with 1 tbsp chia seeds added)
    • 7 oz cooked sweetcorn (can be from a tin or from frozen or cook it yourself)
    • 4 oz charred jarred red peppers (these actually benefit from being from a jar—you can use fresh or frozen if necessary, but only jarred will give you the extra gut-healthy benefits from fermentation)
    • 1 avocado, pitted, peeled, and cut into small chunks
    • ½ red onion, thinly sliced
    • 6–8 sun-dried tomatoes, chopped
    • 2 tbsp extra virgin olive oil
    • 2 tsp chipotle chili paste (adjust per your heat preferences)
    • 1 tsp black pepper, coarse ground
    • ½ tsp MSG or 1 tsp low-sodium salt
    • Juice of 1 lime

    Method

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

    1) Mix the cooked rice, red onion, sweetcorn, red peppers, avocado pieces, and sun-dried tomato, in a bowl. We recommend to do it gently, or you will end up with guacamole in there.

    2) Mix the olive oil, lime juice, chipotle chili paste, black pepper, and MSG/salt, in another bowl. If perchance you have a conveniently small whisk, now is the time to use it. Failing that, a fork will suffice.

    3) Add the contents of the second bowl to the first, tossing gently but thoroughly to combine well, and serve.

    Enjoy!

    Want to learn more?

    For those interested in some of the science of what we have going on today:

    Take care!

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  • Your Future Self – by Dr. Hal Herschfield

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    How do you want to be, one year from now? Five years from now? Ten years from now?

    Now, how would you have answered that same question one, five, ten years ago?

    The reality, according to Dr. Hal Herschfield, is that often we go blundering into the future blindly, because we lack empathy with our future self. Our past self, we can have strong feelings about. They could range from compassion to shame, pride to frustration, but we’ll have feelings. Our future self? A mystery.

    What he proposes in this book, therefore, is not merely the obvious “start planning now, little habits that add up”, etc, but also to address the underlying behavioral science of why we don’t.

    Starting with exercises of empathy for our tomorrow-self (literally tomorrow, i.e. the day after this one), and building a mindset of “paying it forward”—to ourself.

    By treating our future self like a loved one, we can find ourselves a lot more motivated to actually do the things that future-us will thank us for.

    The real value of this book is in the progressive exercises, because it’s a “muscle” that most people haven’t exercised much. But when we do? What a superpower it becomes!

    Bottom line: if you know what you “should” do, but somehow just don’t do it, this book will help connect you to your future self and work as a better team to get there… the way you actually want.

    Click here to check out Your Future Self, and start by gifting this book to future-you!

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  • Love Sense – by Dr. Sue Johnson

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    Let’s quickly fact-check the subtitle:

    • Is it revolutionary? It has a small element of controversy, but mostly no
    • Is it new? No, it is based on science from the 70s that was expanded in the 80s and 90s and has been, at most, tweaked a little since.
    • Is it science? Yes! It is so much science. This book comes with about a thousand references to scientific studies.

    What’s the controversy, you ask? Dr. Johnson asserts, based on our (as a species) oxytocin responsiveness, that we are biologically hardwired for monogamy. This is in contrast to the prevailing scientific consensus that we are not.

    Aside from that, though, the book is everything you could expect from an expert on attachment theory with more than 35 years of peer-reviewed clinical research, often specifically for Emotionally Focused Therapy (EFT), which is her thing.

    The writing style is similar to that of her famous “Hold Me Tight: Seven Conversations For A Lifetime Of Love”, a very good book that we reviewed previously. It can be a little repetitive at times in its ideas, but this is largely because she revisits some of the same questions from many angles, with appropriate research to back up her advice.

    Bottom line: if you are the sort of person who cares to keep working to improve your romantic relationship (no matter whether it is bad or acceptable or great right now), this book will arm you with a lot of deep science that can be applied reliably with good effect.

    Click here to check out Love Sense, and level-up yours!

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  • Eat To Beat Hyperthyroidism!

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    It’s Q&A Day at 10almonds!

    Have a question or a request? We love to hear from you!

    In cases where we’ve already covered something, we might link to what we wrote before, but will always be happy to revisit any of our topics again in the future too—there’s always more to say!

    As ever: if the question/request can be answered briefly, we’ll do it here in our Q&A Thursday edition. If not, we’ll make a main feature of it shortly afterwards!

    So, no question/request too big or small

    ❝Would love to see more on eating vegan. I am allergic to soy in any form which seems to be in everything❞

    There is a lot of it about, isn’t there? Happily, these days, a lot of meat and dairy alternatives are also made from other sources, for example pea protein is getting used a lot more nowadays in meat substitutes, and there are many kinds of alternatives to dairy (e.g. nut milks, oat milk, hemp milk, and—which is a branding nightmare but very healthy—pea milk).

    You might like these previous main features of ours:

    Also, if doing a whole foods plant-based diet, lentils (especially brown lentils) can be used as a great substitute for minced beef/lamb in recipes that call for such.

    Boil the lentils (a liter of water to a cup of lentils is great; use a rice cooker if you have one!) along with the seasonings you will use (herbs appropriate to your dish, and then: black pepper is always good; you shouldn’t need to add salt; a teaspoon of low-sodium yeast extract is great though, or to really get the best nutritional benefits, nooch).

    When it is done, you shouldn’t have excess water now, so just use as is, or if you want a slightly fatty kick, fry briefly in a little extra virgin olive oil, before using it however you were planning to use it.

    Enjoy!

    ❝What foods should I eat for hyperthyroidism? My doctor tells me what foods to avoid, but not what to eat❞

    Great question! We’ll have to do a main feature on hyperthyroidism one of these days, as so far we’ve only done features on hypothyroidism:

    As for hyperthyroidism…

    Depending on your medications, your doctor might recommend a low iodine diet. If so, then you might want to check out:

    American Thyroid Association | Low Iodine Diet Plan

    …for recommendations.

    But in a way, that’s still a manner of “what to avoid” (iodine) and then the foods to eat to avoid that.

    You may be wondering: is there any food that actively helps against hyperthyroidism, as opposed to merely does not cause problems?

    And the answer is: yes!

    Cruciferous vegetables (e.g. cabbage, sprouts, broccoli, cauliflower, etc) contain goitrin, which in immoderate quantities can cause problems for people with hypothyroidism because it can reduce thyroid hormone synthesis. If you have hyperthyroidism, however, this can work in your favor.

    Read more: The role of micronutrients in thyroid dysfunction

    The above paper focuses on children, but it was the paper we found that explains it most clearly while showing good science. However, the same holds true for adults:

    Read more: Concentrations of thiocyanate and goitrin in human plasma, their precursor concentrations in brassica vegetables, and associated potential risk for hypothyroidism

    Notwithstanding that the title comes from the angle of examining hypothyroidism, the mechanism of action makes clear its beneficence in the case of hyperthyroidism.

    Selenium is also a great nutrient in the case of autoimmune hyperthyroidism, because it is needed to metabolize thyroid hormone (if you don’t metabolize it, it’ll just build up):

    Selenium and Thyroid Disease: From Pathophysiology to Treatment

    The absolute top best dietary source of selenium is Brazil nuts, to the point that people without hyperthyroidism have to take care to not eat more than a few per day (because too much selenium could then cause problems):

    NIH | Selenium Fact Sheet for Health Professionals

    (this contains information on the recommended amount, the upper limit amount, how much is in Brazil nuts and other foods, and what happens if you get too much or too little)

    Note: after Brazil nuts (which are about 5 times more rich in selenium than the next highest source), the other “good” sources of selenium—mostly various kinds of fish—are also “good” source of iodine, so you might want to skip those.

    Want more ideas?

    You might like this from LivHealth:

    Hyperthyroidism Diet: 9 Foods To Ease Symptoms

    Enjoy!

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  • The Exercise That Protects Your Brain

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    The Neuroscientist In The Gym

    This is Dr. Wendy Suzuki. She’s a neuroscientist, and an expert in the neurobiology of memory, as well as neuroplasticity, and the role of exercise in neuroprotection.

    We’ve sneakily semi-featured her before when we shared her Big Think talk:

    Brain Benefits In Three Months… Through Walking?

    Today we’re going to expand on that a little!

    A Quick Recap

    To share the absolute key points of that already fairly streamlined rundown:

    • Exercise boosts levels of neurotransmitters such as dopamine and serotonin (and, which wasn’t mentioned there, noradrenaline)
      • These are responsible for motivation, happiness, and focus (amongst other things)
    • Persistent exercise boosts certain regions of the brain in particular, most notably the pre-frontal cortex and the hippocampi*
      • These are responsible for planning and memory (amongst other things)

    Dr. Suzuki advocates for stepping up your exercise routine if you can, with more exercise generally being better than less (unless you have some special medical reason why that’s not the case for you).

    *often referred to in the singular as the hippocampus, but you have one on each side of your brain (unless a serious accident/incident destroyed one, but you’ll know if that applies to you, unless you lost both, in which case you will not remember about it).

    What kind(s) of workout?

    While a varied workout is best for overall health, for these brain benefits specifically, what’s most important is that it raises your heart rate.

    This is why in her Big Think talk we shared before, she talks about the benefits of taking a brisk walk daily. See also:

    Walking, Better

    If that’s not your thing, though (and/or is for whatever reason an inaccessible form of exercise for you), there is almost certainly some kind of High Intensity Interval Training that is a possibility for you. That might sound intimidating, but if you have a bit of floor and can exercise for one minute at a time, then HIIT is an option for you:

    How To Do HIIT (Without Wrecking Your Body)

    Dr. Suzuki herself is an ardent fan of “intenSati” which blends cardio workouts with yoga for holistic mind-and-body fitness. In fact, she loves it so much that she became a certified exercise instructor:

    Wendy Suzuki | IntenSati

    How much is enough?

    It’s natural to want to know the minimum we can do to get results, but Dr. Suzuki would like us to bear in mind that when it comes to our time spent exercising, it’s not so much an expense of time as an investment in time:

    ❝Exercise is something that when you spend time on it, it will buy you time when you start to work❞

    ~ Dr. Wendy Suzuki

    Read more: A Neuroscientist Experimented on Her Students and Found a Powerful Way to Improve Brain Function

    Ok, but we really want to know how much!

    Dr. Suzuki recommends at least three to four 30-minute exercise sessions per week.

    Note: this adds up to less than the recommended 150 minutes of moderate exercise per week, but high-intensity exercise counts for twice the minutes for these purposes, e.g. 1 minute of high-intensity exercise is worth 2 minutes of moderate exercise.

    How soon will we see benefits?

    Benefits start immediately, but stack up cumulatively with continued long-term exercise:

    ❝My lab showed that a single workout can improve your ability to shift and focus attention, and that focus improvement will last for at least two hours. ❞

    ~ Dr. Wendy Suzuki

    …which is a great start, but what’s more exciting is…

    ❝The more you’re working out, the bigger and stronger your hippocampus and prefrontal cortex gets. Why is that important?

    Because the prefrontal cortex and the hippocampus are the two areas that are most susceptible to neurodegenerative diseases and normal cognitive decline in aging. ❞

    ~ Dr. Wendy Suzuki

    In other words, while improving your heart rate through regular exercise will help prevent neurodegeneration by the usual mechanism of reducing neuroinflammation… It’ll also build the parts of your brain most susceptible to decline, meaning that when/if decline sets in, it’ll take a lot longer to get to a critical level of degradation, because it had more to start with.

    Read more:

    Inspir Modern Senior Living | Dr. Wendy Suzuki Boosts Brain Health with Exercise

    Want more from Dr. Suzuki?

    You might enjoy her TED talk:

    Click Here If The Embedded Video Doesn’t Load Automatically

    Prefer text? TED.com has a transcript for you

    Prefer lots of text? You might like her book, which we haven’t reviewed yet but will soon:

    Healthy Brain, Happy Life: A Personal Program to Activate Your Brain and Do Everything Better – by Dr. Wendy Suzuki

    Enjoy!

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