Male Line Mutations at the Forefront of Genetic Biology

6:30 pm – 7:30 pm on Thursday 17 October 2013, at The Royal Society, London

Going to the Francis Crick Lecture, entitled “Mutations: Great and Small”, at the Royal Society last night was an eye-opener.

Dr Matthew Hurles, post-doctoral research fellow in population genetics at the University of Cambridge, was awarded this lecture because of his contributions to our understanding of structural variation in the human genome, the mechanisms that cause this variation and its consequences for medicine and evolution.

Besides initial technology trouble with the projector not working, this was a fast-paced and engaging lecture that never lost my interest.

Matthew Hurles is a gifted speaker who can connect with audiences of all abilities. I won’t pretend I come anywhere near to understanding his field but to my knowledge he was informing us about the latest developments – much of it as yet unpublished – in genetic mutation research. According to the Royal Society website, the subject of the lecture was:

“…how his investigations of this previously under-appreciated form of genetic variation have helped to shape our current understanding of both the genetic causes of disease, and the mutation processes that edit the genome as it is passed from one generation to the next…”

Apparently, certain types of uncommon genetic mutations are passed down through the male line, because Y chromosomes are most likely to copy wrongly. This is because, throughout a man’s life, his sperm are reproducing every sixteen days.

In contrast, all the eggs a woman can produce in her lifetime are stored in her ovaries from when she is a foetus in the womb. As a man gets older and his sperm have been copied so many times, combined with the fact the mutation process is imperfect, his offspring are more likely to have mutations. This contradicts current wisdom that older mothers are the parents most likely to pass on genetic mutations to their children, whilst no one has paid much attention to the father’s role.

One significant fact is that it is completely random as to whether any particular individual will develop a serious genetic mutation, because any man’s collection of sperm contains all the mutations for every single serious disease a person can possibly have.

This has real-life implications for how the medical profession can go about treating genetic diseases. For example – and this is highly relevant to my work with the Mini Cooking Club charity – some children are born with a genetic predisposition to obesity. This means that some obese children, who have been taken in to care because their weight is considered a result of neglect, have been returned to their parents. Of course, this doesn’t mean that healthy eating and exercise aren’t important, just that some individuals may be less to blame for their weight struggles.

You could tell it was a scientific lecture because Hurles broached the subject of genetic screening, and how more sophisticated methods of mutation detection can be applied to foetuses. This means that, pre-birth, parents will have increased knowledge of whether their child has a serious disease that would impact their quality of life – so much so they may wish to terminate it. It thrills me to hear someone talking so openly and intelligently about a subject that deserves serious consideration. “Messing around” with genetics is still considered something akin to voodoo.

Of course, someone had to ask the question of whether this kind of screening, were it to be put in place, would eradicate the variation in the human gene pool and, ultimately, “stop” evolution. Apparently, this is very unlikely.

All in all, it was a good lecture, and an experience I’d be keen to repeat. Education never stops, even when you’ve left university and crunch that keyboard from nine to five in case anyone suspects that you’re not working. A person should try to learn about all aspects of life, but particularly a subject so intimately concerned with the processes of our own existence. Biology, especially human biology, is a topic that literally everyone can relate to.

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