Matsumoto M, Hayasaka S, Hotta Y, Fujiki K, Fujimaki T, Takeda M, Ishida N, Endo S, Kanai A
Department of Ophthalmology, Toyama Medical and Pharmaceutical University, Japan.
J Hum Genet. 1998;43(4):242-5. doi: 10.1007/s100380050081.
We examined for mitochondrial DNA (mtDNA) mutations at nucleotide positions(nt) 3460, 14,484, 9438, 9804, and 15,257 in ten Japanese patients with idiopathic optic neuropathy unassociated with a mutation at nt11,778. The mtDNAs were amplified by polymerase chain reaction (PCR), the products were digested with restriction enzymes, and the sizes of the fragments were analyzed on 8% polyacrylamide gel. Of the ten patients, one had an mtDNA mutation at nt3460 and another patient had a mutation at nt14,484. We suggest that mtDNA mutations in Japanese patients with optic neuropathy unassociated with a mutation at nt11,778 should be further investigated.
