Assessment of mitochondrial gene in proliferative vitreoretinal tissues from patients with familial diabetes mellitus.
Fibrovascular tissues obtained at therapeutic vitrectomy from 22 patients with proliferative diabetic retinopathy were studied for a mutation of tRNALEU(UUR) at nucleotide position (np) 3243 of mitochondrial DNA (mtDNA). We found a mutation of mtDNA in the vitreous sample of one patient, a 44-year-old woman who had maternally inherited, familial, non-insulin-dependent diabetes mellitus of 25-year duration with recurrent vitreous hemorrhages due to proliferative retinopathy. Heteroduplex analysis also detected the mutant-type mtDNA in the vitreous sample of this patient. The abnormality was, however, not observed in the peripheral blood sample from either this patient orr her family members with diabetes mellitus. The other 21 patients were negative for the mutation in vitreous specimens as well as in peripheral blood. Although a firm conclusion cannot be drawn from a single case report, our observations suggest that this case was an example of tissue-specific expression of mtDNA mutation. Further studies of a larger number of patients with familial diabetes mellitus seem justified.
Isashiki
Y
Y
Department of Ophthalmology, Kagoshima University Faculty of Medicine,, Japan.
Ohba
N
N
Hokita
N
N
Sakamoto
Y
Y
Uemura
A
A
Nakagawa
M
M
Osame
M
M
Izumo
S
S
D000328:Adult; D001483:Base Sequence; D004252:DNA Mutational Analysis; D017931:DNA Primers / Q000737:chemistry; D004272:DNA, Mitochondrial / Q000032:analysis*; D003924:Diabetes Mellitus, Type 2 / Q000235:genetics; D003930:Diabetic Retinopathy / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D005260:Female; D005654:Fundus Oculi; D006801:Humans; D008297:Male; D008928:Mitochondria / Q000235:genetics*; D008969:Molecular Sequence Data; D009692:Nucleic Acid Heteroduplexes / Q000032:analysis; D017354:Point Mutation / Q000235:genetics*; D016133:Polymerase Chain Reaction; D014821:Vitrectomy; D018630:Vitreoretinopathy, Proliferative / Q000235:genetics* / Q000473:pathology / Q000601:surgery
D017931:DNA Primers; D004272:DNA, Mitochondrial; D009692:Nucleic Acid Heteroduplexes