title: Investigation on mitochondrial tRNA(Leu/Lys), NDI and ATPase 6/8 in Iranian multiple sclerosis patients.
abstract: As with chromosomal DNA, the mitochondrial DNA (mtDNA) can contain mutations that are highly pathogenic . In fact, many diseases of the central nervous system are known to be caused by mutations in mtDNA. Dysfunction of the mitochondrial Respiratory Chain (RC) has been shown in patients with neurological disease including Alzheimer's disease (AD), Parkinson's disease (PD) and Multiple sclerosis (MS). MS is a demyelinating disease of central nervous system characterized by morphological hallmarks of inflammation, demyelination and axonal loss. Considering this importance, we decided to investigate several highly mutative parts of mtDNA for point mutations as MT-LTI (tRNA(Leucine1(UUA/G))), MT-NDI (NADH Dehydrogenase subunit 1), MT-COII (Cytochrome c oxidase subunit II), MT-TK (tRNA(Lysine)), MT-ATP8 (ATP synthase subunit F0 8) and MT-ATP6 (ATP synthase subunit F0 6) in 20 Iranian MS patients and 80 age-matched control subjects by PCR and automated DNA sequencing to evaluate any probable point mutations. Our results revealed that 15 (75%) out of 20 MS patients had point mutations. Some of point mutations were newly found in this study. This study suggested that point mutation occurred in mtDNA might be involved in pathogenesis of MS.
authors.affiliation: Sciences and Research Campus, Islamic Azad University, Tehran, Iran.
authors.forename: Solmaz Etemad
authors.initials: SE
authors.lastname: Ahari
authors.forename: Massoud
authors.initials: M
authors.lastname: Houshmand
authors.forename: Mehdi Shafa Shariat
authors.initials: MS
authors.lastname: Panahi
authors.forename: Sadaf
authors.initials: S
authors.lastname: Kasraie
authors.forename: Mostafa
authors.initials: M
authors.lastname: Moin
authors.forename: Mohammad Ali
authors.initials: MA
authors.lastname: Bahar
mesh_terms: D016022:Case-Control Studies; D004252:DNA Mutational Analysis; D004272:DNA, Mitochondrial / Q000032:analysis; D003576:Electron Transport Complex IV / Q000235:genetics; D006801:Humans; D007492:Iran; D025261:Mitochondrial Proton-Translocating ATPases / Q000235:genetics*; D009103:Multiple Sclerosis / Q000235:genetics*; D009245:NADH Dehydrogenase / Q000032:analysis / Q000235:genetics*; D017354:Point Mutation; D012356:RNA, Transfer, Leu / Q000032:analysis / Q000235:genetics*
chemical_list: D004272:DNA, Mitochondrial; D012356:RNA, Transfer, Leu; D009245:NADH Dehydrogenase; C515075:NADH dehydrogenase subunit 1, human; C117108:cytochrome C oxidase subunit II; D003576:Electron Transport Complex IV; C412204:ATP synthase subunit 6; C513300:MT-ATP8 protein, human; D025261:Mitochondrial Proton-Translocating ATPases