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The mitochondrial ND1 T3308C mutation in a Chinese family with the secondary hypertension.
- Source :
-
Biochemical and biophysical research communications [Biochem Biophys Res Commun] 2008 Mar 28; Vol. 368 (1), pp. 18-22. Date of Electronic Publication: 2008 Jan 14. - Publication Year :
- 2008
-
Abstract
- Mutations in mitochondrial DNA have been associated with hypertension. We report here the clinical, genetic, and molecular characterization of one four-generation Han Chinese family with hypertension. Two matrilineal relatives in this family exhibited the variable degree of a secondary hypertension (renal hypertension) at the age-at-onset of 42 and 56years old, respectively. Sequence analysis of the complete mitochondrial DNA in this pedigree revealed the presence of the known hypertension-associated ND1 T3308C mutation and 42 other variants, belonging to the Asian haplogroup D4h. The T3308C mutation resulted in the replacement of the first amino acid, translation-initiating methionine with a threonine in ND1. Furthermore, the ND3 T3308C mutation also locates in two nucleotides adjacent to the 3' end of mitochondrial tRNA(Leu(UUR)). Thus, this T3308C mutation caused an alteration on the processing of the H-strand polycistronic RNA precursors or the destabilization of ND1 mRNA. The occurrence of the T3308C mutation in these genetically unrelated pedigrees affected by diseases but absence of 242 Chinese controls as well as the mitochondrial dysfunctions detected in cells carrying this mutation indicate that this mutation is involved in the pathogenesis of hypertension. However, the mild biochemical defects, the lower penetrance of hypertension in this Chinese family and the presence of some control populations suggested the involvement of other modifier factors in the pathogenesis of hypertension associated with this ND1 T3308C mutation.
- Subjects :
- Adult
Base Sequence
Cysteine genetics
Cysteine metabolism
DNA, Mitochondrial genetics
Female
Humans
Hypertension complications
Male
Molecular Sequence Data
Mutation genetics
NADH Dehydrogenase genetics
Pedigree
Threonine genetics
Threonine metabolism
Asian People genetics
Hypertension genetics
Hypertension physiopathology
Mitochondria enzymology
NADH Dehydrogenase metabolism
Subjects
Details
- Language :
- English
- ISSN :
- 1090-2104
- Volume :
- 368
- Issue :
- 1
- Database :
- MEDLINE
- Journal :
- Biochemical and biophysical research communications
- Publication Type :
- Academic Journal
- Accession number :
- 18194667
- Full Text :
- https://doi.org/10.1016/j.bbrc.2007.12.193