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Archiver > GENEALOGY-DNA > 2007-07 > 1185548299
From:
Subject: Re: [DNA] Is H5a a pathological subclade?
Date: Fri, 27 Jul 2007 10:58:19 EDT
In a message dated 7/26/2007 7:06:26 PM Pacific Daylight Time,
writes:
> In plain English, they're saying that this is a gene that causes
> Alzheimers,
> but it doesn't often actually cause Alzheimers.
[referring to "The tRNA(Gln) 4336 mitochondrial DNA variant is not a high
penetrance mutation which predisposes to dementia before the age of 75 years."
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&;
list_uids=9004131 ]
It's hard to tell from the abstract, and I don't have full-text myself, but
the article was written as a sort of rebuttal to an earlier study suggesting a
causal relationship. I suspect Tysoe et al are arguing against any
relationship, even a low penetrance one.
If you follow the above link to PubMed, you can see "Related Links", some of
which claim a relationship and some of which don't. It's often the case that
early reports of an association don't hold up in larger studies or different
populations. For instance, the abstract from the Neurosci Letter says they found
the 4336C variant in 1/155 Alzheimer patients and 4/105 age-matched controls.
Ann Turner
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