Genotype and phenotype association in Leber’s hereditary optic neuropathy
Leber’s hereditary optic neuropathy (LHON) is one of the most common hereditary mitochondrial optic neuropathies characterized by bilateral, painless, subacute or acute loss of central vision. The disease usually develops between the ages of 15 and 35. The majority of LHON patients are men (about 9...
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| Format: | Article |
| Language: | English |
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Vilnius University Press
2020-09-01
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| Series: | Neurologijos seminarai |
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| Online Access: | https://www.journals.vu.lt/neurologijos_seminarai/article/view/27720 |
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| author | L. Matukynaitė R. Liutkevičienė A. Gelžinis R. Žemaitienė |
| author_facet | L. Matukynaitė R. Liutkevičienė A. Gelžinis R. Žemaitienė |
| author_sort | L. Matukynaitė |
| collection | DOAJ |
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Leber’s hereditary optic neuropathy (LHON) is one of the most common hereditary mitochondrial optic neuropathies characterized by bilateral, painless, subacute or acute loss of central vision. The disease usually develops between the ages of 15 and 35. The majority of LHON patients are men (about 90%). LHON prevalence is commonly associated with the three most common point mutations in the mitochondrial deoxyribonucleic acid (mtDNA): m.11778 G>A, m.14484 T>C, m.3460 G>A. Point mutations that occur in deoxyribonucleic acid leads to mitochondrial respiratory chain I complex damage in all main known mutations.
In this article, we review associations between the genotype and phenotype of LHON with the various mtDNA mutations in patients with LHON.
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| format | Article |
| id | doaj-art-8dc99c58da6b49ebaaee44c9e4b7ba4c |
| institution | Kabale University |
| issn | 1392-3064 2424-5917 |
| language | English |
| publishDate | 2020-09-01 |
| publisher | Vilnius University Press |
| record_format | Article |
| series | Neurologijos seminarai |
| spelling | doaj-art-8dc99c58da6b49ebaaee44c9e4b7ba4c2025-01-20T18:22:41ZengVilnius University PressNeurologijos seminarai1392-30642424-59172020-09-01243(85)10.29014/ns.2020.25Genotype and phenotype association in Leber’s hereditary optic neuropathyL. Matukynaitė 0R. Liutkevičienė 1A. Gelžinis 2R. Žemaitienė 3Lithuanian University of Health SciencesLithuanian University of Health SciencesLithuanian University of Health SciencesLithuanian University of Health Sciences Leber’s hereditary optic neuropathy (LHON) is one of the most common hereditary mitochondrial optic neuropathies characterized by bilateral, painless, subacute or acute loss of central vision. The disease usually develops between the ages of 15 and 35. The majority of LHON patients are men (about 90%). LHON prevalence is commonly associated with the three most common point mutations in the mitochondrial deoxyribonucleic acid (mtDNA): m.11778 G>A, m.14484 T>C, m.3460 G>A. Point mutations that occur in deoxyribonucleic acid leads to mitochondrial respiratory chain I complex damage in all main known mutations. In this article, we review associations between the genotype and phenotype of LHON with the various mtDNA mutations in patients with LHON. https://www.journals.vu.lt/neurologijos_seminarai/article/view/27720Leber’s hereditary optic neuropathygenotypephenotypeassociations |
| spellingShingle | L. Matukynaitė R. Liutkevičienė A. Gelžinis R. Žemaitienė Genotype and phenotype association in Leber’s hereditary optic neuropathy Neurologijos seminarai Leber’s hereditary optic neuropathy genotype phenotype associations |
| title | Genotype and phenotype association in Leber’s hereditary optic neuropathy |
| title_full | Genotype and phenotype association in Leber’s hereditary optic neuropathy |
| title_fullStr | Genotype and phenotype association in Leber’s hereditary optic neuropathy |
| title_full_unstemmed | Genotype and phenotype association in Leber’s hereditary optic neuropathy |
| title_short | Genotype and phenotype association in Leber’s hereditary optic neuropathy |
| title_sort | genotype and phenotype association in leber s hereditary optic neuropathy |
| topic | Leber’s hereditary optic neuropathy genotype phenotype associations |
| url | https://www.journals.vu.lt/neurologijos_seminarai/article/view/27720 |
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