The coexistence of mitochondrial ND6 T14484C and 12S rRNA A1555G mutations in a Chinese family with Leber's hereditary optic neuropathy and hearing loss.

The coexistence of mitochondrial ND6 T14484C and 12S rRNA A1555G mutations in a Chinese family with Leber's hereditary optic neuropathy and hearing loss. Research Abstract Details 

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The coexistence of mitochondrial ND6 T14484C and 12S rRNA A1555G mutations in a Chinese family with Leber's hereditary optic neuropathy and hearing loss. Abstract Text:

Qi-Ping Wei,Xiangtian Zhou,Li Yang,Yan-Hong Sun,Jian Zhou,Guang Li,Robert Jiang,Fan Lu,Jia Qu,Min-Xin Guan,

We report here the clinical, genetic and molecular characterization of one three-generation Han Chinese family with Leber's hereditary optic neuropathy (LHON) and hearing loss. Four of 14 matrilineal relatives exhibited the moderate central vision loss at the average age of 12.5 years. Of these, one subject exhibited both LHON and mild hearing impairment. Sequence analysis of the complete mitochondrial genomes in the pedigree showed the presence of homoplasmic LHON-associated ND6 T14484C mutation, deafness-associated 12S rRNA A1555 mutation and 47 other variants belonging to Eastern Asian haplogroup H2. None of other mitochondrial variants was evolutionarily conserved and functional significance. Therefore, the coexistence of the A1555G mutation and T14484C mutations in this Chinese family indicate that the A1555G mutation may play a synergistic role in the phenotypic manifestation of LHON associated ND6 T14484C mutation. However, the incomplete penetrance of vision and hearing loss suggests the involvement of nuclear modifier genes and environmental factors in the phenotypic expression of these mtDNA mutations.

The coexistence of mitochondrial ND6 T14484C and 12S rRNA A1555G mutations in a Chinese family with Leber's hereditary optic neuropathy and hearing loss. Publishing Authors By Initials

QP Wei,X Zhou,L Yang,YH Sun,J Zhou,G Li,R Jiang,F Lu,J Qu,MX Guan,

For similar nucleic acids, nucleotides, and nucleosides: nucleic acids: rna: rna, ribosomal research abstracts see: nucleic acids, nucleotides, and nucleosides: nucleic acids: rna: rna, ribosomal research

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The coexistence of mitochondrial ND6 T14484C and 12S rRNA A1555G mutations in a Chinese family with Leber's hereditary optic neuropathy and hearing loss. Journal Published:

PUBLICATION TYPE: Research Support, Non-U.S. Gov

Journal: Biochemical and biophysical research communication

VOLUME: 357

Page Numbers: 910-6

Journal Abbreviation: Biochem. Biophys. Res. Commun.

ISSN: 0006-291X

DAY: 16

MONTH: 04

YEAR: 2007

The coexistence of mitochondrial ND6 T14484C and 12S rRNA A1555G mutations in a Chinese family with Leber's hereditary optic neuropathy and hearing loss. Information

Number of References:

LANGUAGE: eng

NlmUniqueID: 372516

The coexistence of mitochondrial ND6 T14484C and 12S rRNA A1555G mutations in a Chinese family with Leber's hereditary optic neuropathy and hearing loss. Keywords Mesh Terms:

KEYWORDS: RNA, Ribosomal

MESH TERMS: genetics

Chemical & Substance for Abstract: The coexistence of mitochondrial ND6 T14484C and 12S rRNA A1555G mutations in a Chinese family with Leber's hereditary optic neuropathy and hearing loss. Information

Substance Name: NADH Dehydrogenase

Registry Number: EC 1.6.99.3

Grant and Affiliation Information for The coexistence of mitochondrial ND6 T14484C and 12S rRNA A1555G mutations in a Chinese family with Leber's hereditary optic neuropathy and hearing loss.

AFFILIATION: Department of Ophthalmology, Dongfang Hospital, Beijing University of Chinese Medicine and Pharmacology, Beijing 100078, China.

Country: United States

AGENCY: United States NINDS

GRANT: R01NS44015

ACRONYM: NS

MEDLINETA: Biochem Biophys Res Commun

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