Affiliations: [a] University of Belgrade, Institute for Nuclear Sciences “Vinca”, Department of Radiobiology and Molecular Genetics, Belgrade, Serbia | [b] University of Belgrade, School of Medicine, Department of Neurology, Belgrade, Serbia | [c] University of Belgrade, Faculty of Pharmacy, Department of Physiology, Belgrade, Serbia
Correspondence:
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Correspondence to: Bajic Vladan, PhD, Professor of Research, Institute for Nuclear Sciences “Vinca”, Department of Radiobiology and Molecular Genetics 080, Mike Alasa 12-14, P.O. box 522, Belgrade, Serbia. Tel.: +38 1113408147; Fax: +38 1116447485; E-mail: [email protected].
Abstract: X-chromosome instability has been a long established feature in Alzheimer's disease (AD). Premature centromere division and aneuploidy of the X-chromosome has been found in peripheral blood lymphocytes and neuronal tissue in female AD patients. Interestingly, only one chromosome of the X pair has been affected. These results raised a question, “Is the X-chromosome inactivation pattern altered in peripheral blood lymphocytes of women affected by AD?” To address this question, we analyzed the methylation status of androgen receptor promoter which may show us any deviation from the 50 : 50% X inactivation status in peripheral blood lymphocytes of women with AD. Our results showed skewed inactivation patterns (>90%). These findings suggest that an epigenetic alteration on the inactivation centers of the X-chromosome (or skewing) relates not only to aging, by might be a novel property that could account for the higher incidence of AD in women.
Keywords: Alzheimer's disease, aneuploidy, methylation specific qPCR, X-chromosome, X-chromosome skewing
