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 Disjournal_title
Neurobiology of diseaseauthors
Grazina M,Silva F,Santana I,Santiago B,Mendes C,Simões M,Oliveira M,Cunha L,Oliveira Cdoi
10.1016/j.nbd.2003.11.004keywords:
subject
Has Abstractpub_date
2004-03-01 00:00:00pages
306-11issue
2eissn
0969-9961issn
1095-953Xpii
S0969996103002420journal_volume
15pub_type
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