The role of MT-ND1 m.3635G>A mutation in Leber's hereditary optic neuropathy / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 747-751, 2016.
Artigo
em Chinês
| WPRIM
| ID: wpr-345370
ABSTRACT
<p><b>OBJECTIVE</b>To investigate the role of MT-ND1 m.3635G>A mutation in the pathogenesis of Leber's hereditary optic neuropathy (LHON).</p><p><b>METHODS</b>Biochemical characteristics including the activity of complex Ⅰ, ATP production and oxygen consumption rate among lymphoblastoid cell lines derived from 3 carriers, 3 affected matrilineal relatives of the families and 3 controls were compared.</p><p><b>RESULTS</b>Comparison of mitochondrial functions in lymphoblastoid cell lines of the carriers, patients and controls showed a 51.0% decrease in the activity of complex Ⅰ in patients compared with controls (P<0.05). The m.3635G>A mutation has resulted in decreased efficiency of ATP synthesis (P<0.05). Comparison of oxygen consumption rate showed that the basal OCR (P<0.05), ATP-linked OCR (P<0.05) and the maximum OCR (P<0.05) have all reduced to some extent compared with the controls.</p><p><b>CONCLUSION</b>These results showed that m.3635G>A, as a LHON-associated mutation, can lead to mitochondrial dysfunction.</p>
Texto completo:
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Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Linhagem
/
Trifosfato de Adenosina
/
Atrofia Óptica Hereditária de Leber
/
Povo Asiático
/
Genética
/
Mitocôndrias
/
Mutação
/
NADH Desidrogenase
Limite:
Feminino
/
Humanos
/
Masculino
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2016
Tipo de documento:
Artigo
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