Frontotemporal dementia and mitochondrial DNA transitions

Neurobiology of Disease

Filipe Silva¹  Cândida Mendes¹  Luı́s Cunha¹  Catarina Oliveira²  Isabel Santana²  Marta Simões²  Manuela Grazina³  Beatriz Santiago³  Miguel Oliveira³ 

[1] Neurochemistry Department, Center for Neurosciences of Coimbra, University of Coimbra, 3004-517, Coimbra, Portugal;Neurology Unit, University Hospital of Coimbra, 3000-075 Coimbra, Portugal;Biochemistry Institute, Faculty of Medicine, University of Coimbra, 3004-504, Coimbra, Portugal;

关键词: Frontotemporal dementia;    mtDNA;    ND1;    3316;    3337;    Point mutation;   

DOI  :  

来源: DOAJ

【 摘 要 】

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.

【 授权许可】

Unknown