Analysis of functional consequences of haplogroup J polymorphisms m.4216T>C and m.3866T>C in human MT-ND1: mutagenesis of homologous positions in Escherichia coli.
Mitochondrion
; 10(4): 358-61, 2010 Jun.
Article
en En
| MEDLINE
| ID: mdl-20197120
ABSTRACT
MtDNA sequence variation is presumed to be neutral in effect, but associations with diseases and mtDNA haplogroups have been reported. The aim here was to evaluate the functional consequences of m.4216T>C present in haplogroup J. Furthermore, we evaluated m.3866T>C in MT-ND1, a variant detected in a child belonging to haplogroup J and with an isolated complex I deficiency. Homologous substitutions were introduced into Escherichia coli. NADH dehydrogenase domain activity of NDH-1 with either one or both mutations was markedly decreased suggesting that m.4216T>C and m.3866T>C may have an effect on the structural integrity of complex I.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Contexto en salud:
3_ND
Problema de salud:
3_neglected_diseases
/
3_zoonosis
Asunto principal:
ADN Mitocondrial
/
Mutagénesis
/
Complejo I de Transporte de Electrón
/
Escherichia coli
/
NADH Deshidrogenasa
Límite:
Humans
Idioma:
En
Revista:
Mitochondrion
Año:
2010
Tipo del documento:
Article
País de afiliación:
Finlandia