Genetic Variation of MT-ND Genes in Frontotemporal Lobar Degeneration: Biochemical Phenotype-Genotype Correlation.

CONCLUSION: To our knowledge, this is the first report of the complete sequence of the MT-ND genes in FTLD patients and correlation with MRC activity. The high number of mtDNA variations identified and a significant decrease in complex I activity suggest a possible involvement of mtDNA alterations in FTLD. Although the majority of these alterations are not primarily pathogenic, an interaction with other mutations may occur, leading to the disease, worsening its expression or influencing age of onset. © 2015 S. Karger AG, Basel.
PMID: 25871488 [PubMed - as supplied by publisher]

Source: Neuro-Degenerative Diseases - April 3, 2015 Category: Neurology Authors: Gaspar R, Santana I, Mendes C, Fernandes AS, Duro D, Simões M, Luís D, Santos MJ, Grazina M Tags: Neurodegener Dis Source Type: research