Leber's Hereditary Optic Neuropathy (LHON) with
Mitochondrial ND4 Gene Mutation (11778) in a Thai
Patient
PATCHAREE LERTRIT, M.D., Ph.D.*,
YANEE TRONGPANICH,M.Sc.*,
NGAMKAE RUANGVARAVATE,M.D.**,
ARISA IMSUMRAN, M.Sc.*,
CHAROENSRI MUNGKORNKARN, B.Sc. (in Pharm), M.Sc.*
NEELOBOL NEUNGTON, M.D.*
Affiliation : * Department of Biochemistry,
** Department of Ophthalmology, Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok I 0700, Thailand.
AbstractLeber's hereditary optic neuropathy (LHON) is a maternally transmitted disease, cha-
racterized by bilateral optic atrophy predominantly in healthy young males. This disorder has
shown to be associated with DNA mutation in mitochondrial genome of the patients. We report
here a young man who came to the hospital with subacute visual loss in one eye, followed by the
other eye within two months. His echocardiogram was normal. A G-tA base substitution at
nucleotide position 11778 which changes a conserved arginine to histidine at amino acid position
340 of ND4, a protein subunit of respiratory chain enzyme complex I in oxidative phosphoryla-
tion system, was detected in his leucocyte mitochondrial genome.
Keywords : Leber's Hereditary Optic Neuropathy - Mitochondrial ND4 Gene Mutation - Thai
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