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Mitochondrial DNA haplogroups and susceptibility to AD and dementia with Lewy bodies

Lookup NU author(s): Professor Patrick Chinnery, Geoffrey Taylor, Dr Richard Andrews, Dr Christopher Morris, Professor Robert Taylor, Professor Ian McKeith, Emeritus Professor Robert Perry, Professor Jim Edwardson, Emeritus Professor Doug Turnbull


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The authors analyzed the relationship between nuclear genetic risk factors (apolipoprotein E genotype) and mitochondrial DNA (mtDNA) sequence variants in pathologically proved cases of AD (n = 185), dementia with Lewy bodies (DLB; n = 84), and control subjects (n = 179). Specific European mtDNA haplogroups and the A4336G mutation were not associated with an increased risk of AD. mtDNA haplogroup H was overrepresented in the DLB patients when compared with control subjects. Additional studies are needed to clarify the significance of the association.

Publication metadata

Author(s): Chinnery PF, Taylor GA, Howell N, Andrews RM, Morris CM, Taylor RW, McKeith IG, Perry RH, Edwardson JA, Turnbull DM

Publication type: Article

Publication status: Published

Journal: Neurology

Year: 2000

Volume: 55

Issue: 2

Pages: 302-304

ISSN (print): 0028-3878

ISSN (electronic): 1526-632X

Publisher: Lippincott Williams & Wilkins

PubMed id: 10908912