Tag Archives: genes

For the sake of the children- 3 parent families

3 parents

 

I have spent my laboratory working life in stem cell research. I am interested in ageing and stem cells seem a good place to start.

I have spent a lot of time around the regenerative medicine network and around people involved in Assisted Reproductive Technologies (ART) and In Vitro Fertilisation (IVF).

I have written papers in this field and in the ethics of this field. So I am not saying any of this without having thought about it.

In the UK we have been lucky to have the Human Fertilisation and Embryo Authority which regulates what is allowed. Because something is possible does not mean it should be done. It is possible for you to murder, but you should not do that.

We have medical interventions that can  save our lives, which is to the good, but we also have medical interventions creating lives that could not exist otherwise, and that is where a lot of contention comes in. I know that there are many opinions and feelings on this and I am not convinced who knows best.

We hear about people that cannot have babies, usually from women that cannot have babies, are infertile for some reason. They feel their lives are blighted, Now for me, I think that is a psychological problem as well as a medical one. I think they have focussed on the one thing they can’t do to the detriment of anything else. There are people with an illness that become that illness, they lose all sense of themselves, their identity becomes their illness. The Disability Lobbies have been stalwarts at altering that image. People with a disability are not the disability; that is merely a part of them and they are also able; able to be themselves. They are more than their disability. The same with disease or illness.

We also hear about people wanting babies that cannot have them for other reasons, such as being male.

And now we have people that do not accept this and so want to have babies somehow. Medical interventions and surrogacy have implemented this supply to those that demand it.

Surrogacy is basically renting a womb. There may not be a large payment, but the surrogate mother provides the uterus for the growth of the embryo. The embryo may be from the surrogate’s egg mixed with donor sperm from a man that wants a biological baby or it may be a donated egg from a woman that wants a biological baby, but cannot manage a pregnancy.

The problem of course is who really are the baby’s biological parents? I ask this as I imagine that when the child grows up it will want to know. Never mind the parents wishes. I want to know how the child feels.

We are more than our genetic material, but it plays a large part. Most of our genetic material, DNA, is held in the nucleus of the cell and codes for the genes that make the proteins that make us.

The mitochondria are little organs, organelles, inside each cell in our body. They are responsible for energy conversion. Glucose comes from our food and oxygen from the air that enters our lungs. Both glucose and oxygen cross into our blood and our blood transports the glucose and oxygen to every cell in our body. There insulin helps glucose to be taken into the cell (hence the problem for those with insulin deficits, diabetes) and both glucose and oxygen enter the cell. The glucose and oxygen combine in a similar way that petrol and oxygen combine in a car, burning up to release the energy contained in the glucose molecule, in the atomic bonds. However, in us it is done at a much lower temperature than in a car, with the help of enzymes which are protein molecules and proteins are coded for by DNA.

The glucose and oxygen combine to form ATP (the molecule on my front page) which is used as an energy store to fuel all the reactions of the body. Most of this is done inside mitochondria, so mitochondria are vital for our lives.

Mitochondria are unusual organelles. They contain their own genetic material, mitochondrial DNA (mtDNA). Like any DNA it can have mutations and these get passed on in the maternal line as the mother makes eggs which have mitochondria in, her mitochondria. Each parent also donates nuclear genetic material to the embryo, but only the mother donates mtDNA. We can trace people back to ‘Eve’ by their maternal mitochondria. Many of us are interested in where we come from.

Mitochondria only contain about 37 genes while nuclear DNA (nDNA) contains about 30,000 genes. But the mitochondrial genes are vital and any mutations can lead to serious and very deadly diseases.

If a woman is carrying mutated mitochondrial genes she will pass them on to her offspring regardless of whether her nuclear genes and the father’s nuclear genes are fine.

To circumvent this, women with mitochondrial diseases need three biological donors:

  • one giving an egg with healthy mitochondria ( a donor female) but with the nucleus removed so there is no nuclear genetic material,
  • one giving nuclear genetic material (the ‘mother’ with the faulty mitochondria) but not donating the egg and
  • one giving sperm (the male donor) containing nuclear genetic material. Three partners/donors/parents.

The egg may then be brought through pregnancy by the ‘mother’ if it is only her mitochondrial genetic material that is at fault. In other-words, her nucleus with nuclear genes can be put into the egg with no nucleus but healthy mitochondria and fertilised by sperm. The problem is, you have just cloned a baby.

Again, how do the children feel when they grow up?

I imagine in the first case that the child of a surrogate would want to know the egg donor or the womb donor. In some cultures and religions it is the womb donor who is the mother, not the egg donor. I know of people who have used this method to have children because they wanted children. I am not sure how their children will react to finding out that their mother was rent-a-womb and that their parents have no further interest in her once she has done her bit.

For the mitochondrial child, there may only have been an egg with mitochondrial DNA genetic material donated and the pregnancy might have been in the mother. Not just the social mother, but the biological one.

I think we need to stop thinking about parents rights as there are no real inalienable rights to have children.  Who do you blame if you can’t have children? Who do you sue; yourself?  We need to start thinking about how we use women as just another commodity in our individual choices, in our buying power, in the way we treat each other and the planet as one big shop. We need to start thinking about how the children will feel and what they will want when they grow up. And most of us want to know where we came from, who our biological parents are, what their culture and customs are and how come they sold/gave us to another.

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Cancer and Blame

 

Smoking

Most of us probably want to believe that we get what we deserve! However, we were not really put on this earth to make these judgements. We cannot tell how other people really live, what they face each day, and what they deserve let alone blame them for all that happens to them.

A lot of money has been spent on bad science, pseudo science and bad public health. Most epidemiology looks backwards, what has happened, and from that tries to predict what will happen. But we don’t have a crystal ball and no event reoccurs in human populations exactly the same way twice. Yes, we can learn from history, but we cannot copy it or predict how things will turn out in the future. Hence economic prophecies based on pseudo scientific principles. What a lot of twaddle we hear from economists.

Public health initiatives are often based on very poor ideas. You read those ridiculous articles such as eating salt increases your chance of heart attack. The chance they are talking about is usually very small and the amount of salt that had to be consumed to increase this small chance was very, very large. But then a public health official will spend a lot of your money on an anti-salt campaign.

You cannot live without salt. All of your reactions in your body (your metabolism) occur in a salty liquid, a plasma-type substance,  which exists both within the cell and between the cells of your body. You are about 80% water and a lot of salt. You are salty. Your kidneys filter water and salt keeping them in balance to meet your body’s needs. In fact where water goes so does salt. One cannot travel without the other. It is to do with osmotic pressure, keeping your cells at the correct salt-water balance. Too much water (i.e. too little salt) and your cells would swell up and burst. Too little water (i.e. too much salt) and your cells will shrivel and die. It is in balance. There can be too much or too little of everything. Life needs a balance. So campaigns that reduce salt too much also do you harm. If you live in a hot country where you sweat to cool yourself down (too much heat in your body kills you) then you are losing water AND salt. You need to replace BOTH.

A lot of bad science and pseudo science has been done on cancer. Why? Because it gets funding is the simple answer. Unfortunately, if you put in a proposal about cancer (or include education as an outcome!) you tend to stand a better chance of funding. While basic research, the science of cancer cells for example, is needed, a whole load of others get funding on the back of this. So we get the poor results and the silly links between things that aren’t linked at all.

I can invent some silly links myself such as ‘watching tv after 6pm gives you cancer’ or ‘reading gossip magazines gives you cancer’. I can prove these while sitting in my armchair. I would bet that nearly everybody that has died of cancer has watched TV after 6pm. There may be a few exceptions, but they would be brushed aside as exceptions. As to the gossip magazine, if you haven’t read one, you still probably read some gossip in a newspaper or heard it on the radio or TV or from a neighbour so I could still justify my arbitary claim somehow. This is because correlation does not prove causation.

Correlation is when two things occur together. The best example I was given to explain this was by a psychologist colleague. This is it:

In summer more people eat ice cream than in winter

In summer more people drown than in winter

Therefore (stupid correlation bit) eating ice cream causes you to drown.

No it doesn’t. More people eat ice cream in summer because they are hot and it may cool them down. More people swim in summer also to cool them down rather than go swimming when it is freezing outside. You could say that cooling down causes you to drown, but you don’t tend to drown from eating ice cream or sweating, which also cools you down. To drown you need to be trying to swim. In water or another liquid. If more people swim in summer than in winter than there are increased numbers of people at risk of not being able to swim in the water they are in and therefore drowning. We could probably argue that fewer people are watching TV in the summer as they are out doors swimming so watching TV prevents you from drowning. I guess it does as most of us don’t watch it while swimming (or even bathing in our bathrooms, although I have stayed in an hotel with a TV in the bathroom). Still, I would not say that watching TV prevents people from drowning. Now I hope you see that two things may occur together, ice cream eating and swimming, but they don’t necessarily cause the effect, drowning. Swimming doesn’t cause drowning either, if you think about it. It is the inability to swim at that moment in time that may cause you to drown. That may be due to a number of reasons: your general inability to swim, sudden changes in conditions, freak accidents.

Most of the bad pseudo science you hear is this sort of statistical analysis of populations done by people that say they are doing science, but they aren’t.

Well you must have heard a lot about cancer if you are over 20 years old. The most obvious one is ‘smoking causes cancer, particularly lung cancer’. I have a colleague who has never smoked or lived with smokers or lived in smoking areas and died of lung cancer. That would be impossible if smoking causes lung cancer. It increases your risk of getting lung cancer. The problem is that we are very bad at thinking about risk. Risk is to do with probability and we humans are not good at that, hence so many of us gamble. I hear people say that they make a living out of gambling. The only people that really make a living at gambling are the bookies and betting shops, the people behind the counter, not the people in front of it. We all have a flutter. But the flutter has been calculated so that we generally lose. The bookies are better at probability than we are.

Richard Doyle is the epidemiologist that came up with the link between smoking and cancer. He was good at his job. What he also said, that people have chosen to ignore is that if you give up smoking by the age of 30 you will, within about 10 years, have lungs as if you have never smoked. All those campaigns wasting money on getting teenagers to quit. It is the older (parents) that need to quit, the 30+ year olds. All that wasted money because they did not read the rest of the article!

How many of you have been asked by the doctor if you have ever smoked and if you were to say yes, 25 years ago, they would write you down as a smoker and blame all your problems on that. My father gave up smoking 40 years before he died. Still, any pulmonary (lung) condition he had they tried to blame on his having smoked. I would think that being a ‘Bevan Boy’ (sent down the coal mines) in World War 2 at a young age would have been more detrimental to his pulmonary health. Living 40 years after smoking and not having lung cancer may have been a bit of a give away in diagnostic terms; but why go with intelligence when you can go with poor science? There is a lot of stupid on the planet and wow, am I fed up of hearing it.

Coal tar has a detrimental effect on genes. It has carcinogenic chemicals, ones that can alter genetic material, ie cause mutations. That is what a mutation is. A change in one letter in your genetic code. You have three billion letters so finding a change in one of them is a tad difficult. Coupled to that you have 10 trillion cells. Each cell has that 3 billion letter dictionary. So you are looking for one letter change amongst 3 billion x 10 trillion. That is a one in a 30 billion, trillion letter. Now do you see the problem?

When daft pseudo-gerontologists (I have one in mind) come up with ways to live longer, which basically boil down to the need to diagnose people earlier  with any disease potential (and we all have that) so they can live longer they aren’t really gerontologists. They aren’t biologists. They are popularists. They are talking for the sake of hearing their own voices. Where do you look? Which one of the 10 trillion cells? Which one of the 3 billion letters in one of those cells? Do you think people haven’t been trying to diagnose cancer before it kills you? Not just treat it, but spot it as early as possible?

We have always known that diagnosing cancer is problematic. By the time we can see it there needs to be about a gram of cells. A gram is a very small amount. A teaspoon of sugar (which may ‘help the medicine go down’!) has about 5 grams on it. A gram of cells contains about a billion cells. That’s a lot of cells. Cancerous cells.

The problem with bad science is the lack of understanding of the biology of us.

Cancer has two things going on; one is genetic, the other is cell growth. The genetic bit is that there needs to be a mutation and they occur randomly. A mutation can hit a gene that has no effect on cancerous growth. But it can hit a gene that does. However, one gene in one cell won’t kill you. What you need is for the cell to grow and grow.

Most cells only grow, make new cells, to replace old cells that have worn out and died. Most of your bodily activities are carried out by ‘terminally differentiated cells’ functional end cells which do not grow and make new cells. For instance oxygen is carried in your blood by red blood cells (erythrocytes). They are terminally differentiated. They have completed their growth and development and have become restricted in what they can do (differentiated). They can only be red blood cells. When they get worn out they get replaced by cells further back in development, growing cells that are quite undeveloped. They form pools of new cells that then go on to differentiate (become different) and highly specialised, such as red blood cells that only really carry out one function, carry oxygen in the blood. It is a bit like any manufacturing process. You take a sheet of metal, It could be made into anything. If is made into the front driver side of a car door. It does not then become a car roof.

The early, underdeveloped cells that provide later cells are the Stem Cells.

If you have a mutation in a cell that is about to become a red blood cell (a reticulocyte) it may not have much effect. Some red blood cells may lack a certain protein (genes code for proteins). If the mutation is in a gene for the protein that carries oxygen (haemoglobin) then there is a problem, the red cell is inefficient. If it is in a gene for cell growth it has no effect as red cells don’t grow. To get a cancer in blood cell you need to affect the cells that grow, the stem cells. There are not many of them and they are hard to find. Why would you look for them unless you already knew there was a blood cancer?

So predicting cancer and finding cancer is very difficult. If it was easy those pseudo-scientists could do it too.

Cristian Tomasetti and cancer geneticist Bert Vogelstein of Johns Hopkins School of Medicine have just released results showing that it is bad luck getting cancer, a matter of random chance. Which gene and which cell is not predictable.

Some cancers are more common than others. Cancers occur more often in tissues that are replaced often such as the linings of tubes (stomach tubes, gut tubes, urinary tubes) and the linings of us, our skin. These are from epithelial tissues and the cancers they give rise to are called carcinomas.

Cells involved in support and transport are also replaced due to wear and tear. Each time a cell is replaced it may cause a mutation to be made in its genetic material ( a misreading of the code). Tissue such as blood, bone, cartilage and dermal tissue is replaced often. This sort of tissue, connective tissue can therefore become cancerous causing cancers called sarcomas.

Cells that seldom grow and divide, muscle and nerves, seldom pass on mistakes so muscle and neural cancers are very rare. The neural tissue that supports nerve cells, glial tissue, does grow and that can become cancerous. Any tissue that grows is thus vulnerable. Tissue that doesn’t grow is less vulnerable. That’s it. Most of the other populist stuff about cancer is not worth the funding or the TV time. Hopefully this latest finding, which is what we all knew anyway, will stop some of the dreadful nonsense and false hope. Even more importantly, it may stop the blame.