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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  • 7 Fruits Every Senior Should Eat Today (And Why)

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    What will you prioritize in the new year?

    Fruits to enjoy regularly

    The 7 fruits recommended for seniors in this video are:

    Apples

    • Rich in soluble fiber (pectin) for lowering LDL cholesterol.
    • Contains phytochemicals such as quercetin and other polyphenols that reduce inflammation and support heart health.
    • High in vitamin C for immunity, skin elasticity, and joint health.

    Bananas

    • Natural energy boost from carbohydrates.
    • High in potassium for regulating blood pressure, fluid balance, and preventing muscle cramps.
    • Supports cardiovascular health and muscle function.

    Avocados

    • Rich in monounsaturated fats to improve cholesterol levels.
    • High in potassium for blood pressure regulation.
    • Contains vitamins E and K for brain health and bone density.

    Grapes

    • Hydrating and rich in antioxidants like resveratrol, which supports circulation and reduces inflammation.
    • Contain vitamins C and K for immunity and bone health.

    Plums

    • Natural laxative with high fiber and sorbitol for digestive health.
    • Rich in potassium and vitamin K for bone density and reducing osteoporosis risk.
    • Contain polyphenols for reducing inflammation and supporting cognitive health.

    Pomegranates

    • Anti-inflammatory and antioxidant-rich (especially punicalagins and anthocyanins).
    • Supports heart health, improves cholesterol levels, and promotes brain health.
    • May help inhibit cancer cell growth in specific types.

    Kiwi

    • High in vitamin C to boost immunity.
    • Rich in fiber and enzymes for digestive health.
    • Low glycemic index, suitable for blood sugar management.

    10almonds note: a lot of those statements can go for a lot of fruits, but those are definitely high on the list for the qualities mentioned!

    For more on all the above, enjoy:

    Click Here If The Embedded Video Doesn’t Load Automatically!

    Want to learn more?

    You might also like to read:

    Top 8 Fruits That Prevent & Kill Cancer ← there are two fruits that appear on both lists!

    Take care!

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  • Healthy sex drive In Our Fifties

    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.

    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

    Q: What’s a healthy sex drive for someone in their 50s?

    A: If you’re happy with it, it’s healthy! If you’re not, it’s not.

    This means… If you’re not (happy) and thus it’s not (healthy), you have two main options:

    1. Find a way to be happier without changing it (i.e., change your perspective)
    2. Find a way to change your sex drive (presumably: “increase it”, but we don’t like to assume)

    There are hormonal and pharmaceutical remedies that may help (whatever your sex), so do speak with your doctor/pharmacist.

    Additionally, if a boost to sex drive is what’s wanted, then almost anything that is good for your heart will help.

    We wrote about heart health yesterday:

    What Matters Most For Your Heart?

    That was specifically about dietary considerations, so you might also want to check out:

    The Knowledge That Harvard Medical School’s Clinical Instructor Dr. Monique Tello Thinks Everyone Should Have About Heart Health

    Take care!

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  • Guinness Is Good For You*

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    Guinness Is Good For You*

    *This is our myth-buster edition, so maybe best not take that at face value!

    To this day, writing the words “Guinness is” into Google will autocomplete to “Guinness is good for you”. The ad campaign proclaiming such launched about a hundred years ago, and was based on Guinness as it was when it was launched another hundred years before that.

    Needless to say, none of this was based on modern science.

    Is there any grain of truth?

    Perhaps its strongest health claim, in terms of what stands up to modern scrutiny, is that it does contain some B vitamins. Famously (as it was once given to pregnant women in Ireland on the strength of such) it contains folate (also known as Vitamin B9). How much?

    A 15oz glass of Guinness contains 12.8µg of folate, which is 3.2% of the RDA. In other words, you could get all the folate your body needs by drinking just 32 glasses of Guinness per day.

    With that in mind, you might want to get the non-alcoholic version!

    “I heard you could live on just Guinness and oranges, because it contains everything but vitamin C?”

    The real question is: how long could you live? Otherwise, a facetious answer here could be akin to the “fun fact” that you can drink lava… once.

    Guinness is missing many essential amino acids and fatty acids, several vitamins, and many minerals. Exactly what it’s missing may vary slightly from region to region, as while the broad recipe is the same, some processes add or remove some extra micronutrients.

    As to what you’d die of first, for obvious reasons there have been no studies done on this, but our money would be on liver failure.

    It would also wreak absolute havoc with your kidneys, but kidneys are tricky beasts—you can be down to 10% functionality and unaware that anything’s wrong yet. So we think liver failure would get you first.

    (Need that 0.0% alcohol Guinness link again? Here it is)

    Fun fact: Top contender in the category of “whole food” is actually seaweed (make sure you don’t get too much iodine, though)!

    Or, should we say, top natural contender. Because foods that have been designed by humans to contain everything we need and more for optimized health, such as Huel, do exactly what they say on the tin.

    And in case you’re curious…

    Read: what bare minimum nutrients do you really need, to survive?

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  • Luxurious Longevity Risotto

    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.

    Pearl barley is not only tasty and fiber-rich, but also, it contains propionic acid, which lowers cholesterol. The fiber content also lowers cholesterol too, of course, by the usual mechanism. The dish’s health benefits don’t end there, though; check out the science section at the end of the recipe!

    You will need

    • 2 cups pearl barley
    • 3 cups sliced chestnut mushrooms
    • 2 onions, finely chopped
    • 6 large leaves collard greens, shredded
    • ½ bulb garlic, finely chopped
    • 8 spring onions, sliced
    • 1½ quarts low-sodium vegetable stock
    • 2 tbsp nutritional yeast
    • 1 tbsp chia seeds
    • 1 tbsp black pepper, coarse ground
    • 1 tsp MSG or 2 tsp low-sodium salt
    • 1 tsp rosemary
    • 1 tsp thyme
    • Extra virgin olive oil, for cooking
    • Optional garnish: fresh basil leaves

    Method

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

    1) Heat a little oil in a large sauté pan; add the onions and garlic and cook for 5 minutes; add the mushrooms and cook for another 5 minutes.

    2) Add the pearl barley and a cup of the vegetable stock. Cook, stirring, until the liquid is nearly all absorbed, and add more stock every few minutes, as per any other risotto. You may or may not use all the stock you had ready. Pearl barley takes longer to cook than rice, so be patient—it’ll be worth the wait!

    Alternative: an alternative is to use a slow cooker, adding a quart of the stock at once and coming back about 4 hours later—thus, it’ll take a lot longer, but will require minimal/no supervision.

    3) When the pearl barley has softened, become pearl-like, and the dish is taking on a creamy texture, stir in the rest of the ingredients. Once the greens have softened, the dish is done, and it’s time to serve. Add the garnish if using one:

    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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  • Tasty Versatile Rice

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    In the nearish future, we’re going to do some incredible rice dishes, but first we need to make sure we’re all on the same page about cooking rice, so here’s a simple recipe first, to get technique down and work in some essentials. We’ll be using wholegrain basmati rice, because it has a low glycemic index, lowest likelihood of heavy metal contamination (a problem for some kinds of rice), and it’s one of the easiest rices to cook well.

    You will need

    • 1 cup wholegrain basmati rice (it may also be called “brown basmati rice“; this is the same)
    • 1 1/2 cups vegetable stock (ideally you have made this yourself from vegetable offcuts that you saved in the freezer, then it will be healthiest and lowest in sodium; failing that, low-sodium vegetable stock cubes can be purchased at most large supermarkets. and then made up at home with hot water)
    • 1 tbsp extra virgin olive oil
    • 1 tbsp chia seeds
    • 1 tbsp black pepper, coarse ground
    • 1 tsp turmeric powder (this small quantity will not change the flavor, but it has important health benefits, and also makes the rice a pleasant golden color)
    • 1 tsp garlic powder
    • 1 tsp yeast extract (this gently improves the savory flavor and also adds vitamin B12)
    • Optional small quantity of green herbs for garnish. Cilantro is good (unless you have the soap gene); parsley never fails.

    This is the ingredients list for a super-basic rice that will go with anything rice will go with; another day we can talk more extensive mixes of herbs and spice blends for different kinds of dishes (and different health benefits!), but for now, let’s get going!

    Method

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

    1) Wash the rice thoroughly. We recommend using a made-for-purpose rice-washing bowl (like this one, for example), but failing that, simply rinse it thoroughly with cold water using a bowl and a sieve. You will probably need to rinse it 4–5 times, but with practice, it will only take a few seconds per rinse, and the water will be coming up clear.

    2) Warm the pan. It doesn’t matter for the moment whether you’re using an electronic rice cooker, a stovetop pressure cooker, electronic pressure cooker, or just a sturdy pan with a heavy lid available, aside from that if it’s something non-stovetop, you now want it to be on low to warm up already.

    3) Separately in a saucepan, bring your stock to a simmer

    4) Put the tbsp of olive oil into the pan (even if you’re confident the rice won’t stick; this isn’t entirely about that) and turn up the heat (if it’s a very simple rice cooker, most at least have a warm/cook differentiation; if so, turn it to “cook”). You don’t want the oil to get to the point of smoking, so, to test the temperature as it heats, flick a single drop of water from your fingertip (you did wash your hands first, right? We haven’t been including that step, but please do wash your hands before doing kitchen things) into the pan. If it sizzles, the pan is hot enough now for the next step.

    5) Put the rice into the pan. That’s right, with no extra liquid yet; we’re going to toast it for a moment. Stir it a little, for no more than a minute; keep it moving; don’t let it burn! If you try this several times and fail, it could be that you need a better pan. Treat yourself to one when you get the opportunity; until then, skip the toasting part if necessary.

    6) Add the chia seeds and spices, followed by the stock, followed by the yeast extract. Why did we do the stock before the yeast extract? It’s because hot liquid will get all the yeast extract off the teaspoon 🙂

    7) Put the lid on/down (per what kind of pan or rice cooker you are using), and turn up the heat (if it is a variable heat source) until a tiny bit of steam starts making its way out. When it does, turn it down to a simmer, and let the rice cook. Don’t stir it, don’t jiggle it; trust the process. If you stir or jiggle it, the rice will cook unevenly and, paradoxically, probably stick.

    8) Do keep an eye on it, because when steam stops coming out, it is done, and needs taking off the heat immediately. If using an automatic rice cooker, you can be less attentive if you like, because it will monitor this for you.

    Note: if you are using a simple pan with a non-fastening lid (any other kind of rice cooking setup is better), more steam will escape than the other methods, and it’s possible that it might run out of steam (literally) before the rice is finished. If the steam stops and you find the rice isn’t done, add a splash of water as necessary (the rice doesn’t need to be submerged, it just needs to have liquid; the steam is part of the cooking process), and make a note of how much you had to add (so that next time you can just add it at the start), and put it back on the heat until it is done.

    9) Having taken it off the heat, let it sit for 5 minutes (with the lid still on) before doing any fluffing-up. Then you can fluff-up and serve, adding the garnish if you want one.

    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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  • The Sucralose News: Scaremongering Or Serious?

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    What’s the news on sucralose?

    These past days the press has been abuzz with frightening tales:

    How true and/or serious is this?

    Firstly, let’s manage expectations. Pineapple juice also breaks down DNA, but is not generally considered a health risk. So let’s keep that in mind, while we look into the science.

    Is sucralose as scary as pineapple juice, or is it something actually dangerous?

    The new study (that sparked off these headlines)

    The much-referenced study is publicly available to read in full—here it is:

    Toxicological and pharmacokinetic properties of sucralose-6-acetate and its parent sucralose: in vitro screening assays

    You may notice that this doesn’t have quite the snappy punchiness of some of the headlines, but let’s break this down, if you’ll pardon the turn of phrase:

    • Toxicological: pertaining to whether or not it has toxic qualities
    • Pharmacokinetic: the science of asking, of chemicals in bodies, “where did it come from; where did it go; what could it do there; what can we know?”
    • Sucralose-6-acetate: an impurity that can be found in sucralose. For perspective, the study found that the sucralose in Splenda contained “up to” 0.67% sucralose-6-acetate.
    • Sucralose: a modified form of sucrose, that makes it hundreds of times sweeter, and non-caloric because the body cannot break it down so it’s treated as a dietary fiber and just passes through
    • In vitro: things are happening in petri dishes, not in animals (human or otherwise), which would be called “in vivo”
    • Screening assays: “we set up a very closed-parameters chemical test, to see what happens when we add this to this” ⇽ oversimplification, but this is the basic format of a screening assay

    Great, now we understand the title, but what about the study?

    Researchers looked primarily at the effects of sucralose-6-acetate and sucralose (together and separately) on epithelial cells (these are very simple cells that are easy to study; conveniently, they are also most of what makes up our intestinal walls). For this, they used a fancy way of replicating human intestinal walls, that’s actually quite fascinating but beyond the scope of today’s newsletter. Suffice it to say: it’s quite good, and/but has its limitations too. They also looked at some in vivo rat studies.

    What they found was…

    Based on samples from the rat feces (somehow this didn’t make it into the headlines), it appears that sucralose may be acetylated in the intestines. What that means is that we, if we are like the rats (definitely not a given, but a reasonable hypothesis), might convert up to 10% of sucralose into sucralose-6-acetate inside us. Iff we do, the next part of the findings become more serious.

    Based on the in vitro simulations, both sucralose and sucralose-6-acetate reduced intestinal barrier integrity at least a little, but sucralose-6-acetate was the kicker when it came to most of the effects—at least, so we (reasonably!) suppose.

    Basically, there’s a lot of supposition going on here but the suppositions are reasonable. That’s how science works; there’s usually little we can know for sure from a single study; it’s when more studies roll in that we start to get a more complete picture.

    What was sucralose-6-acetate found to do? It increased the expression of genes associated with inflammation, oxidative stress, and cancer (granted those three things generally go together). So that’s a “this probably has this end result” supposition.

    More concretely, and which most of the headlines latched onto, it was found (in vitro) to induce cytogenic damage, specifically, of the clastogenic variety (produces DNA strand breaks—so this is different than pineapple’s bromelain and DNA-helicase’s relatively harmless unzipping of genes).

    The dose makes the poison

    So, how much is too much and is that 0.67% something to worry about?

    • Remembering the rat study, it may be more like 10% once our intestines have done their thing. Iff we’re like rats.
    • But, even if it’s only 0.67%, this will still be above the “threshold of toxicological concern for genotoxicity”, of 0.15µg/person/day.
    • On the other hand, the fact that these were in vitro studies is a serious limitation.
    • Sometimes something is very dangerous in vitro, because it’s being put directly onto cells, whereas in vivo we may have mechanisms for dealing with that.

    We won’t know for sure until we get in vivo studies in human subjects, and that may not happen any time soon, if ever, depending on the technical limitations and ethical considerations that sometimes preclude doing certain studies in humans.

    Bottom line:

    • The headlines are written to be scary, but aren’t wrong; their claims are fundamentally true
    • What that means for us as actual humans may not be the same, however; we don’t know yet
    • For now, it is probably reasonable to avoid sucralose just in case

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