Molecular characterization of a Chinese family carrying a novel C4329A mutation in mitochondrial tRNAIle and tRNAGln genes.
BMC Med Genet
; 15: 84, 2014 Jul 23.
Article
en En
| MEDLINE
| ID: mdl-25056089
BACKGROUND: Hypertension is a very common cardiovascular disease influenced by multiple genetic and environmental factors. More recently, there are some studies showed that mutations in mitochondrial DNA have been involved in its pathogenesis. In this study we did further investigations on this relationship. METHODS: Epidemiological research found a Han Chinese family with probable maternally transmitted hypertension. Sequence analysis of the whole mitochondrial DNA was detected from all the family members. And evaluations of the clinical, genetic and molecular characterization were also performed. RESULTS: Matrilineal relatives within the family exhibited varying degrees of hypertension with an onset age of 48-55 years. Sequence analysis of this pedigree showed a novel homoplasmic 4329C > G mutation located at the 3' end of the tRNAIle and tRNAGln genes that was absent from 366 Chinese controls. The cytosine (C) at 4329 position was very important in the structural formation and stabilization of functional tRNAs, which was highly conserved in mitochondria of various organisms and also contributed to the high fidelity of the acceptor arm. Cells carrying this mutation were also shown to harbor mitochondrial dysfunctions. CONCLUSIONS: The C4329G point mutation in tRNAIle and tRNAGln was involved in the pathogenesis of hypertension, perhaps in association with other modifying factors.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
ADN Mitocondrial
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ARN de Transferencia de Glutamina
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ARN de Transferencia de Isoleucina
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Citosina
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Guanina
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Hipertensión
Tipo de estudio:
Observational_studies
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Risk_factors_studies
Límite:
Female
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Humans
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Male
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Middle aged
Idioma:
En
Revista:
BMC Med Genet
Asunto de la revista:
GENETICA MEDICA
Año:
2014
Tipo del documento:
Article
Pais de publicación:
Reino Unido