RGD Reference Report - The mitochondrial ND1 T3308C mutation in a Chinese family with the secondary hypertension. - Rat Genome Database

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The mitochondrial ND1 T3308C mutation in a Chinese family with the secondary hypertension.

Authors: Liu, Y  Li, Z  Yang, L  Wang, S  Guan, MX 
Citation: Liu Y, etal., Biochem Biophys Res Commun. 2008 Mar 28;368(1):18-22. Epub 2008 Jan 14.
RGD ID: 2300400
Pubmed: PMID:18194667   (View Abstract at PubMed)
DOI: DOI:10.1016/j.bbrc.2007.12.193   (Journal Full-text)

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.



RGD Manual Disease Annotations    Click to see Annotation Detail View
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
MT-ND1Humanrenal hypertension  IAGP DNA:missense mutationRGD 
Mt-nd1Ratrenal hypertension  ISOMT-ND1 (Homo sapiens)DNA:missense mutationRGD 
mt-Nd1Mouserenal hypertension  ISOMT-ND1 (Homo sapiens)DNA:missense mutationRGD 

Objects Annotated

Genes (Rattus norvegicus)
Mt-nd1  (mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1)

Genes (Mus musculus)
mt-Nd1  (NADH dehydrogenase 1, mitochondrial)

Genes (Homo sapiens)
MT-ND1  (mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1)


Additional Information