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Information Journal Paper

Title

LEBER HEREDITARY OPTIC NEUROPATHY: DOSE FOLATE PATHWAY GENE ALTERATIONS INFLUENCE THE EXPRESSION OF MITOCHONDRIAL DNA MUTATION?

Pages

  320-327

Keywords

Abstract

 Leber hereditary optic neuropathy (LHON) is an inherited form of bilateral optic atrophy and loss of central vision.  The primary cause of vision loss is mutation in the mtDNA however unknown secondary genetic and/or epigenetic risk factors are suggested to influence its neuropathology. In this study FOLATE gene polymorphisms has examined as possible LHON secondary genetic risk factor in Iranian patients.  Common polymorphisms in methylene tetrahydrofolate reductase (MTHFR) (C677T and A1298C) and methionine synthase reductase (MTRR) (A66G) genes have been tested in 21 LHON patients and 150 normal controls. Strong linkages have been observed between LHON syndrome and C677T of the MTHFR (P<0.001) and A66G of the MTRR (P<0.001) genes.  However, no significant linkage was found between A1298C (P=0.69) of the MTHFR gene and LHON syndrome.  This is the first study that shows MTHFR C677T and MTRR A66G polymorphisms play role in the etiology of LHON syndrome. This finding may help in better understanding of mechanisms involved in neural degeneration and vision loss of LHON and better treatment of patients.

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    APA: Copy

    ALEYASIN, A., GHAZANFARI, M., & HOUSHMAND, M.. (2011). LEBER HEREDITARY OPTIC NEUROPATHY: DOSE FOLATE PATHWAY GENE ALTERATIONS INFLUENCE THE EXPRESSION OF MITOCHONDRIAL DNA MUTATION?. IRANIAN JOURNAL OF BIOLOGY, 24(3), 320-327. SID. https://sid.ir/paper/21587/en

    Vancouver: Copy

    ALEYASIN A., GHAZANFARI M., HOUSHMAND M.. LEBER HEREDITARY OPTIC NEUROPATHY: DOSE FOLATE PATHWAY GENE ALTERATIONS INFLUENCE THE EXPRESSION OF MITOCHONDRIAL DNA MUTATION?. IRANIAN JOURNAL OF BIOLOGY[Internet]. 2011;24(3):320-327. Available from: https://sid.ir/paper/21587/en

    IEEE: Copy

    A. ALEYASIN, M. GHAZANFARI, and M. HOUSHMAND, “LEBER HEREDITARY OPTIC NEUROPATHY: DOSE FOLATE PATHWAY GENE ALTERATIONS INFLUENCE THE EXPRESSION OF MITOCHONDRIAL DNA MUTATION?,” IRANIAN JOURNAL OF BIOLOGY, vol. 24, no. 3, pp. 320–327, 2011, [Online]. Available: https://sid.ir/paper/21587/en

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