Frontotemporal dementia and mitochondrial DNA transitions.

Abstract:

:Frontotemporal dementia (FTD) is the second most common type of primary degenerative dementia. Some patients present an overlap between Alzheimer's disease (AD) and FTD both in neuropathological and clinical aspects. This may suggest a similar overlap in physiopathology, namely an involvement of mitochondrial DNA (mtDNA) in FTD, as it has been associated to AD. To determine if mtDNA is involved in FTD, we performed a Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP) analysis, specific to mtDNA NADH Dehydrogenase subunit 1 (ND1) nucleotides 3337-3340, searching for mutations previously described in Parkinson's and AD patients. We could identify one FTD patient with two mtDNA transitions: one already known (3316 G-to-A) and another unreported (3337 G-to-A). Additionally, mitochondrial respiratory chain complex I activity was reduced in leukocytes of this patient (36% of the control mean activity). To our knowledge, this is the first report of mtDNA variants in FTD patients.

journal_name

Neurobiol Dis

journal_title

Neurobiology of disease

authors

Grazina M,Silva F,Santana I,Santiago B,Mendes C,Simões M,Oliveira M,Cunha L,Oliveira C

doi

10.1016/j.nbd.2003.11.004

keywords:

subject

Has Abstract

pub_date

2004-03-01 00:00:00

pages

306-11

issue

2

eissn

0969-9961

issn

1095-953X

pii

S0969996103002420

journal_volume

15

pub_type

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