Folate pathway gene alteration and etiology of Leber hereditary optic neuropathy (LHON)

LHON is an inherited form of bilateral optic atrophy and loss of central vision. The primary cause of neuropathology and vision loss is mutation in the mtDNA but unknown secondary genetic and/or epigenetic risk factors are suggested. This is the first study has examined folate gene alterations as possible genetic risk factor for LHON. Frequencies of common mutations of C677T and A1298C of the MTHFR gene have been tested in 14 unrelated LHON patients and 145 normal controls. Strong linkages have observed among LHON syndrome and C677T MTHFR (P<0.000, χ2>25) mutation. However, no significant linkage was found between A1298C MTHFR mutation and LHON syndrome. A relationship between C677T MTHFR mutation and LHON neural degeneration etiology can be speculated. This finding help in better understanding of mechanism involve in neuropathology of vision loss and treatment of LHON patients.

کلیدواژه ها:

LHON ، Leber ، MTHFR ، Folate ، Folic acid