Maternally Inherited Essential Hypertension Is Associated With the Novel 4263A>G Mutation in the Mitochondrial tRNA ^Ile Gene in a Large Han Chinese Family

Mitochondrial Genetics and Human Systemic Hypertension

“…17 The authors sequenced mtDNA and identified a novel point mutation (m.4263AϾG) in MT-T1, which codes for mitochondrial tRNA for isoleucine. The AϾG transition, which was homoplasmic (within the resolution of restriction enzyme fragments mapping), is located at the tRNA Ile precursor 5Ј-end processing site.…”

The 12S rRNA A1555G mutation in the mitochondrial haplogroup D5a is responsible for maternally inherited hypertension and hearing loss in two Chinese pedigrees

“…In particular, the average age at onset of hypertension in the affected matrilineal relatives of these families was 60 and 46 years, respectively, while those of other Chinese families carrying the tRNA Met A4435G, tRNA Ile A4263G, and tRNA Gln and tRNA Met A4401G mutations were 50, 52, and 44 years, respectively. [33][34][35][36] On the other hand, the penetrances of hypertension (affected matrilineal relatives/total matrilineal relatives) in these Chinese pedigrees (80% in the family WHP7 and 58.3% in the pedigree WHP8) were higher than other Chinese families carrying the A4435G, A4263G or A4401G mutations. [33][34][35][36] The striking feature is that the average age-of-onset for hearing loss in these two families were 33 and 55 years old, respectively, when aminoglycoside-induced deafness was excluded.…”

“…[33][34][35][36] On the other hand, the penetrances of hypertension (affected matrilineal relatives/total matrilineal relatives) in these Chinese pedigrees (80% in the family WHP7 and 58.3% in the pedigree WHP8) were higher than other Chinese families carrying the A4435G, A4263G or A4401G mutations. [33][34][35][36] The striking feature is that the average age-of-onset for hearing loss in these two families were 33 and 55 years old, respectively, when aminoglycoside-induced deafness was excluded. By contrast, the average age-at-onset for hearing loss without aminoglycoside exposure was 15 and 20 years among 69 Chinese families and 19 Spanish families carrying the A1555G mutation, respectively, 4,5 and some of matrilineal relatives in a large Arab-Israeli family exhibited congenital profound hearing loss.…”

Genetics and Genomics for the Prevention and Treatment of Cardiovascular Disease: Update

“…Although the mechanistic basis of this genotype-phenotype connection is not understood, other mutations in this same gene have been identified in a large Chinese kindred. 89 Thus, mitochondrial dysfunction, as a consequence of aging, may be a general mechanism for essential hypertension; however, this remains an unproven but exciting hypothesis. The association of mitochondrial variants with hypertension in the population, as has been done for stroke, has yet to be explored.…”