Identification of novel mitochondrial mutations in Leber's hereditary optic neuropathy.

ABSTRACT:

Purpose

To screen mitochondrial DNA (mtDNA) variations in Leber hereditary optic neuropathy (LHON).

Methods

Ten LHON patients were selected from neuro-ophthalmology clinics of All India Institute of Medical Sciences (AIIMS), New Delhi, India. Clinical evaluation included slit-lamp biomicroscopy, fundus examination, and neuroimaging. DNA was isolated from whole blood samples. The entire coding region of the mitochondrial genome was amplified by PCR in ten patients and 20 controls. The full mtDNA genome except D-loop was sequenced. All sequences were analyzed against mitochondrial reference sequence NC_012920.

Results

MtDNA sequencing revealed a total of 30 nucleotide variations in the ten LHON patients and 29 in the 20 controls. Of 30 changes, 30.00% (9/30) were nonsyn

SUBMITTER: Kumar M 

PROVIDER: S-EPMC2862244 | biostudies-literature | 2010 Apr

REPOSITORIES: biostudies-literature