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Published on 12 January 2009

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Alzheimer’s linked to faulty gene

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Alzheimer’s disease in women may be due in part to a faulty gene on the female X chromosome, according to scientists at the Mayo Clinic College of Medicine in Jacksonville, USA.

They have found that a variant in the gene PCDH11X linked to late-onset Alzheimer’s disease (Load) has found to be almost entirely confined to women.

The gene provides the coded building instructions for the protocadherin, which promotes signalling in the central nerve system and cell-to-cell adhesion.

A team led by Dr Steven Younkin genetically screened 844 Alzheimer’s patients and compared them with 1,255 healthy controls.

They focused on a 25 single-letter alterations in the genetic code known as single nucleotide polymorphisms (SNPs). Further analysis pinpointed a particular SNP within the PCDH11X gene.

Dr Younkin writes in the journal Nature Genetics: “Further studies to determine how risk for Load is mediated by specific genetic variation in PCDH11X should improve understanding of the molecular basis of Load and open new therapeutic possibilities for this devastating disease.”

Copyright Press Association 2009

Nature Genetics



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