Effect of environmental factors on Leber hereditary optic neuropathy

Authors: Ji Yanchun,  Guan Minxin
DOI: 10.3760/cma.j.issn.2095-0160.2015.01.018
Published 2015-01-10
Cite as Chin J Exp Ophthalmol, 2015,33(1): 83-86.

Abstract                              [Download PDF] [Read Full Text]

Leber hereditary optic neuropathy (LHON) is a maternally inherited disorder associated with mitochondrial DNA (mtDNA) mutations. In the LHON families in different ethnic backgrounds, the mutations of ND1 G3460A, ND4 G11778A and/or ND6 T14484C in the genes encoding subunits of respiratory chain complex I account for more than 50%. But, as we know, the phenotypes of mitochondrial diseases are varied, so the same mutational points may generate different clinical phenotypes, and conversely, different mtDNA mutation variants may generate the similar phenotypes. Some states of LHON including the prone to male, incomplete penetrance, and phenotypic variability of vision loss suggest that other modifier factors probably play a synergic role in the development of LHON. Environmental factor, such as chronic cyanide poisoning, smoking, drinking, trauma, nutrition deficiency and mtDNA methylation, affects mitochondrial function. Therefore, there is an inheritance of gene and environment interactions affecting LHON.

Key words:

Leber hereditary optic neuropathy; Mitochondrion; Mutation; Environmental factor

Contributor Information

Ji Yanchun
Giuseppe Attardi Institute of Mitochondrial Biomedicine, School of Life Sciences, Wenzhou Medical University, Wenzhou 325035, China
Guan Minxin
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