Mitochondrial D-loop variation in leber hereditary neuropathy patients harboring primary G11778A, G3460A, T14484C mutations: J and W haplogroups as high-risk factors.

doi:10.1016/j.arcmed.2006.04.009

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Article

Mitochondrial D-loop variation in leber hereditary neuropathy patients harboring primary G11778A, G3460A, T14484C mutations: J and W haplogroups as high-risk factors.

Archives of medical research - 1 Nov 2006

Shafa Shariat Panahi Mehdi, Houshmand Massoud, Tabassi Abdol Reza

Abstract excerpt

BACKGROUND: Leber hereditary optic neuropathy (LHON) is a maternally inherited form of retinal ganglion cell degeneration leading to optic atrophy in young adults. It is caused by three primary point mutations including G11778A, G3460A, and T14484C in the mitochondrial genome. These three mutations account for the majority of LHON cases and affect genes that encode for different subunits of mitochondrial complex...

Topics

Adult
DNA Mutational Analysis
DNA, Mitochondrial
Haplotypes
Humans
Iran
Mutation
Optic Atrophy, Hereditary, Leber
Polymorphism, Genetic
Risk Factors

Source

Open in PubMed

Identifiers

PMID: 17045122
DOI: 10.1016/j.arcmed.2006.04.009

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