title: Mutation in the mitochondrial tRNA(leu) at position 3243 and spontaneous abortions in Japanese women attending a clinic for diabetic pregnancies.
abstract: Mitochondrial DNA is exclusively maternally inherited. We recently found the prevalence of diabetic patients with an A to G transition at position 3243 of leucine tRNA (3243 base pair (bp) mutation) to be nearly 1% in randomly selected Japanese subjects. Here, we report the higher prevalence of diabetic patients with the 3243 bp mutation in a specific Japanese population of women attending a diabetic pregnancy clinic. Of 102 patients with non-insulin-dependent diabetes mellitus 6 (5.9%) were positive for the mutation, 1 (8.3%) of 12 patients with gestational diabetes and 2 (5.9%) out of 34 borderline diabetic patients. In contrast, none of 64 patients (0%) with insulin-dependent diabetes mellitus had the 3243 bp mutation. Moreover, there was a difference in the prevalence of spontaneous abortions between patients with and without this mutation (27.3 vs 12.4%). Among nine probands with the mutation, four had a history of one spontaneous abortion (p = 0.0518) and two had a history of two abortions (p = 0.0479). Two probands had a spontaneous abortion even while under strict diabetic metabolic control. The 3243 bp mutation thus may cause spontaneous abortion during pregnancy.
authors.affiliation: Diabetes Center, Tokyo Women's Medical College, Japan.
authors.forename: K
authors.initials: K
authors.lastname: Yanagisawa
authors.forename: Y
authors.initials: Y
authors.lastname: Uchigata
authors.forename: M
authors.initials: M
authors.lastname: Sanaka
authors.forename: H
authors.initials: H
authors.lastname: Sakura
authors.forename: S
authors.initials: S
authors.lastname: Minei
authors.forename: M
authors.initials: M
authors.lastname: Shimizu
authors.forename: R
authors.initials: R
authors.lastname: Kanamuro
authors.forename: T
authors.initials: T
authors.lastname: Kadowaki
authors.forename: Y
authors.initials: Y
authors.lastname: Omori
mesh_terms: D000022:Abortion, Spontaneous / Q000453:epidemiology*; D000328:Adult; D017668:Age of Onset; D001786:Blood Glucose / Q000378:metabolism; D003922:Diabetes Mellitus, Type 1 / Q000097:blood / Q000235:genetics*; D003924:Diabetes Mellitus, Type 2 / Q000097:blood / Q000235:genetics*; D016640:Diabetes, Gestational / Q000097:blood / Q000235:genetics*; D005260:Female; D005951:Glucose Tolerance Test; D006801:Humans; D007328:Insulin / Q000097:blood / Q000378:metabolism; D000078790:Insulin Secretion; D007515:Islets of Langerhans / Q000378:metabolism; D007564:Japan; D008297:Male; D010375:Pedigree; D017354:Point Mutation; D011236:Prediabetic State / Q000235:genetics; D011247:Pregnancy; D011254:Pregnancy in Diabetics / Q000097:blood / Q000235:genetics*; D015995:Prevalence; D012356:RNA, Transfer, Leu / Q000235:genetics*
chemical_list: D001786:Blood Glucose; D007328:Insulin; D012356:RNA, Transfer, Leu