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Leber's hereditary optic neuropathy with 3460 mitochondrial DNA mutation.

Leber's hereditary optic neuropathy (LHON) is a maternally transmitted disease causing acute or subacute, bilateral optic atrophy mainly in young men. It is found to be a mitochondrial disorder with the primary mitochondrial DNA (mtDNA) mutations at 11,778, 3460, and 14,484. The incidence of ea...

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Autores principales: Hwang, Jeong-Min, Chang, Bong Leen, Koh, Hyoung Jun, Kim, Ji Yeon, Park, Sung Sup
Formato: Texto
Lenguaje:English
Publicado: Korean Academy of Medical Sciences 2002
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3054852/
https://www.ncbi.nlm.nih.gov/pubmed/11961321
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author Hwang, Jeong-Min
Chang, Bong Leen
Koh, Hyoung Jun
Kim, Ji Yeon
Park, Sung Sup
author_facet Hwang, Jeong-Min
Chang, Bong Leen
Koh, Hyoung Jun
Kim, Ji Yeon
Park, Sung Sup
author_sort Hwang, Jeong-Min
collection PubMed
description Leber's hereditary optic neuropathy (LHON) is a maternally transmitted disease causing acute or subacute, bilateral optic atrophy mainly in young men. It is found to be a mitochondrial disorder with the primary mitochondrial DNA (mtDNA) mutations at 11,778, 3460, and 14,484. The incidence of each mutation is reported to be race-dependent. Point mutations at mtDNA nucleotide position 11,778 and 14,484 have been reported in Korean patients with LHON, however there has been no report of mtDNA mutation at nucleotide position 3460. Molecular genetic analyses at four primary sites (11,778, 14,484, 15,257, and 3460) of mitochondrial DNA using the polymerase chain reaction, restriction enzyme digestion, and direct sequencing were performed in a 35-yr-old man with severe visual loss. A point mutation in the mtDNA at nucleotide position 3460 was identified and a conversion of a single alanine to a threonine was confirmed. To our knowledge, this is the first report confirming mtDNA mutation at nucleotide position 3460 in Korean patients with LHON. Detailed molecular analyses would be very helpful for the correct diagnosis of optic neuropathy of unknown etiology and for genetic counseling.
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spelling pubmed-30548522011-03-15 Leber's hereditary optic neuropathy with 3460 mitochondrial DNA mutation. Hwang, Jeong-Min Chang, Bong Leen Koh, Hyoung Jun Kim, Ji Yeon Park, Sung Sup J Korean Med Sci Research Article Leber's hereditary optic neuropathy (LHON) is a maternally transmitted disease causing acute or subacute, bilateral optic atrophy mainly in young men. It is found to be a mitochondrial disorder with the primary mitochondrial DNA (mtDNA) mutations at 11,778, 3460, and 14,484. The incidence of each mutation is reported to be race-dependent. Point mutations at mtDNA nucleotide position 11,778 and 14,484 have been reported in Korean patients with LHON, however there has been no report of mtDNA mutation at nucleotide position 3460. Molecular genetic analyses at four primary sites (11,778, 14,484, 15,257, and 3460) of mitochondrial DNA using the polymerase chain reaction, restriction enzyme digestion, and direct sequencing were performed in a 35-yr-old man with severe visual loss. A point mutation in the mtDNA at nucleotide position 3460 was identified and a conversion of a single alanine to a threonine was confirmed. To our knowledge, this is the first report confirming mtDNA mutation at nucleotide position 3460 in Korean patients with LHON. Detailed molecular analyses would be very helpful for the correct diagnosis of optic neuropathy of unknown etiology and for genetic counseling. Korean Academy of Medical Sciences 2002-04 /pmc/articles/PMC3054852/ /pubmed/11961321 Text en
spellingShingle Research Article
Hwang, Jeong-Min
Chang, Bong Leen
Koh, Hyoung Jun
Kim, Ji Yeon
Park, Sung Sup
Leber's hereditary optic neuropathy with 3460 mitochondrial DNA mutation.
title Leber's hereditary optic neuropathy with 3460 mitochondrial DNA mutation.
title_full Leber's hereditary optic neuropathy with 3460 mitochondrial DNA mutation.
title_fullStr Leber's hereditary optic neuropathy with 3460 mitochondrial DNA mutation.
title_full_unstemmed Leber's hereditary optic neuropathy with 3460 mitochondrial DNA mutation.
title_short Leber's hereditary optic neuropathy with 3460 mitochondrial DNA mutation.
title_sort leber's hereditary optic neuropathy with 3460 mitochondrial dna mutation.
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3054852/
https://www.ncbi.nlm.nih.gov/pubmed/11961321
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