Mitochondrial DNA copy number in affected and unaffected LHON mutation carriers.

ABSTRACT:

Objectives

Leber's hereditary optic neuropathy (LHON) is a mitochondrial genetic disease characterized by a variable and reduced penetrance. Individuals carrying a primary LHON-causing mitochondrial DNA (mtDNA) mutation may either remain asymptomatic lifelong, as unaffected carriers, or develop sudden central visual loss that rapidly aggravates over some weeks. Over the years several genetic/environmental triggers able to modulate the risk of developing LHON have been proposed. We provided data supporting a possible correlation between LHON penetrance and the mtDNA copy number, a raw index of mitochondrial mass, whose increase could represent a compensatory response that cells implement to alleviate the pathogenic effect of the primary LHON-causing mtDNA mutations.

Data descript

SUBMITTER: Bianco A 

PROVIDER: S-EPMC6302380 | biostudies-literature | 2018 Dec

REPOSITORIES: biostudies-literature