James Watson and the missing gene

The New York Times is reporting that James Watson, co-discover of DNA, will have the whole of his DNA sequence made publicly available, with the exception of one gene known as apolipoprotein E.

Watson doesn’t want to know which version of the gene he has, as it is one of the strongest predictors for the development of Alzheimer’s disease.

In fact, it’s the only gene which has specifically been shown to increase risk for the brain disorder.

The gene for apolipoprotein E, or ApoE as it is more widely known, comes in three main forms or alleles called ApoE ε2, ε3 and ε4.

Studies have consistently shown that the more ApoE Œµ4 alleles you have, the higher the chances of developing Alzheimer’s disease and the younger the age it will begin to take effect.

In fact, having two ApoE Œµ4 alleles virtually guarantees you’ll have Alzheimer’s by the age of 80 and if you do get Alzheimer’s disease, the presence of this allele seems to make it more likely that you’ll experience delusions and psychosis.

The gene codes for the apolipoprotein which combines with fats (such as cholesterol) in the body and transports them to various places, including the liver, where they are broken down.

Alzheimer’s disease is linked to the accumulation of ‘amyloid plaques’ and ‘neurofibrillary tangles’ in the brain, both of which are abnormal clumps of protein.

The presence of the ApoE ε4 allele makes these protein clumps more likely, even in people who have not developed the disorder.

However, the exact link between ApoE and fat processing, protein clumps and Alzheimer’s disease is still not fully understood.

What Watson does understand, however, is that he could work out how likely he is to develop Alzheimer’s disease from the versions of the gene he carries, and it seems he’d rather not live with the knowledge.

This is not an uncommon situation, as people with genetic disorders, or people whose close family have genetic disorders, often have to decide whether they want to know the chances of them or their children developing a potentially life-threatening disease.

Genetic counselling is a service that assists the the person in understanding the risks and possible outcomes based on the science of genetics, as well as dealing with the emotional impact of the sometimes difficult process of discovery and decision-making.

Link to NYT article ‘Genome of DNA Discoverer Is Deciphered’.

One Comment

  1. Posted June 6, 2007 at 4:37 pm | Permalink

    There are a number of other mutations (e.g mutations in presenilin) associated with Alzheimers, though perhaps only polymorphisms in ApoE are validated for late-onset Alzheimers.


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