No evidence of association between optic neuritis and secondary LHON mtDNA mutations in patients with multiple sclerosis
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No evidence of association between optic neuritis and secondary LHON mtDNA mutations in patients with multiple sclerosis. / Andalib, Sasan; Talebi, Mahnaz; Sakhinia, Ebrahim; Farhoudi, Mehdi; Sadeghi-Bazargani, Homayoun; Masoudian, Nooshin; Vafaee, Manouchehr Seyedi; Gjedde, Albert.
In: Mitochondrion, Vol. 36, 2017, p. 182-185.Research output: Contribution to journal › Journal article › Research › peer-review
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T1 - No evidence of association between optic neuritis and secondary LHON mtDNA mutations in patients with multiple sclerosis
AU - Andalib, Sasan
AU - Talebi, Mahnaz
AU - Sakhinia, Ebrahim
AU - Farhoudi, Mehdi
AU - Sadeghi-Bazargani, Homayoun
AU - Masoudian, Nooshin
AU - Vafaee, Manouchehr Seyedi
AU - Gjedde, Albert
PY - 2017
Y1 - 2017
N2 - Leber's Hereditary Optic Neuropathy (LHON) shares features with Multiple Sclerosis (MS). Both diseases develop optic lesions. Frequent secondary LHON mutations in MS patients may explain the optic damage. Here, we tested the hypothesis that secondary LHON mutations are associated with optic neuritis (ON) in MS patients. We recruited 56 MS subjects with ON and 47 MS subjects without ON. DNA was extracted by salting out, after sampling of peripheral blood from each participant. We completed Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP) analysis with appropriate primers and restriction endonucleases for seven secondary LHON mutations. Products were visualized using 3% agarose gel electrophoresis with the aid of DNA safe stain in a UV transilluminator. Accuracy of the genotyping procedure was confirmed by sequencing. Data was analyzed using chi square and Fisher exact tests and logistic regression analysis. There was no significant difference between the numbers of MS subjects with ON and without ON that carried secondary LHON mutations (T4216C [P = 0.1], A4917G [P = 0.2], G13708A [P = 0.6], G15257A [P = 1], G15812A [P = 0.8], G15927A [P = 1], G15928A [P = 0.4]). The evidence from the present study are not consistent with the hypothesis that secondary LHON mutations are associated with ON in MS subjects.
AB - Leber's Hereditary Optic Neuropathy (LHON) shares features with Multiple Sclerosis (MS). Both diseases develop optic lesions. Frequent secondary LHON mutations in MS patients may explain the optic damage. Here, we tested the hypothesis that secondary LHON mutations are associated with optic neuritis (ON) in MS patients. We recruited 56 MS subjects with ON and 47 MS subjects without ON. DNA was extracted by salting out, after sampling of peripheral blood from each participant. We completed Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP) analysis with appropriate primers and restriction endonucleases for seven secondary LHON mutations. Products were visualized using 3% agarose gel electrophoresis with the aid of DNA safe stain in a UV transilluminator. Accuracy of the genotyping procedure was confirmed by sequencing. Data was analyzed using chi square and Fisher exact tests and logistic regression analysis. There was no significant difference between the numbers of MS subjects with ON and without ON that carried secondary LHON mutations (T4216C [P = 0.1], A4917G [P = 0.2], G13708A [P = 0.6], G15257A [P = 1], G15812A [P = 0.8], G15927A [P = 1], G15928A [P = 0.4]). The evidence from the present study are not consistent with the hypothesis that secondary LHON mutations are associated with ON in MS subjects.
KW - LHON
KW - LHON mutations
KW - Mitochondrial DNA
KW - mtDNA
KW - Multiple sclerosis
KW - Optic neuritis
KW - Optic neuropathy
U2 - 10.1016/j.mito.2017.08.005
DO - 10.1016/j.mito.2017.08.005
M3 - Journal article
C2 - 28802665
AN - SCOPUS:85028757582
VL - 36
SP - 182
EP - 185
JO - Mitochondrion
JF - Mitochondrion
SN - 1567-7249
ER -
ID: 188450198