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Original ArticleOpen Access
Leber's Hereditary Optic Neuropathy (LHON) with Mitochondrial ND4 Gene Mutation (11778) in a Thai Patient
Lertrit P 
,
Ruangvaravate N ,
Trongpanich Y ,
lmsumran A ,
Mungkornkarn C ,
Neungton N
,
Ruangvaravate N ,
Trongpanich Y ,
lmsumran A ,
Mungkornkarn C ,
Neungton N Leber's hereditary optic neuropathy (LHON) is a maternally transmitted disease, characterized
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 phosphorylation
system, was detected in his leucocyte mitochondrial genome.
Key word : Leber's Hereditary Optic Neuropathy - Mitochondrial ND4 Gene Mutation - Thai
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 phosphorylation
system, was detected in his leucocyte mitochondrial genome.
Key word : Leber's Hereditary Optic Neuropathy - Mitochondrial ND4 Gene Mutation - Thai
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