Fig.1 Pedigree of the family: male ;/proband. Table Clinical profile of this patient c.f.fpg=fasting plasma glucose,mt=multiple insulin treatment.

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2 Fig.1 Pedigree of the family: male ;/proband. Table Clinical profile of this patient c.f.fpg=fasting plasma glucose,mt=multiple insulin treatment. CT=conventional insulin treatment,n.c.v=nerve conduction velocity b.g.=background retinopathy

3 下肢柊痛を主訴としたミトコンドリア遺伝子異常を持つ糖尿病の1例 Table 2 Laboratory data and other results of examinations.abnormalities in glucose metabolic indices,serum CPK,audiometry,electrocardiogram, ophthalmoscopy and neurological tests of peripheral nerve. (正常 ),運 are found 動後3.30mg/dlと,空腹時乳酸値とピルビン酸値の高値および運動により過度の上昇を認めた. ミトコンドリア遺伝子検査 1) た.こ方法:DNAは末梢血白血球より調整しのDNAを用い2種のプライマー(5'-AG- GACAAGAGAAATAAGGCC-3': と 5'-CACGTTGGGGCCTTTGCGTA-3': )を用いてtRNA(Leu)を法にて増幅した.こ I(GGGCCCを含む領域をPCR のPCR産物を制限酵素Apa 確認する)にて切断し,アスゲルにて電気泳動を行い,3243変 1 Fig.2 GGGCCC)の ) 294 bp mitochondria1 DNA fragments( )were prepared from this case(lane 1),a patient in reference 3(lane-2),a 結果(Fig.2):コより得たPCR産のPCR産ントロール(レ物(294bp)はApaIに物3)(レもの,レーン3はーン2は文献3のもApa 871 より切症例から得た候群断により179 バンドを生じたい患者(レ I切断により179bpと115bpのーン4) 異を有する既知同一変異を持っMELAS症の一症例から得たもの)はApaI切 bpと115bpの異(GAGCCC 有無を検討した. 断されたなかったい一方,3243変 patient with MELAS syndrome with mutation at nucleotide 3243(lane-3),and a control(lane-4). These were digested with Apa I,andanalyzed on agarose gel.positions of undigested(294 bp)and digested PCR fragments(179 bp and 115 bp)are indicated. ガローーン1) バンド

5 1) Ballinger SW, Shoffner JM, Hedaya EV, Trounce I, Polak MA, Koontz DA and Wallace DC (1992). Maternally trasmitted diabetes and deafness associated with a 10.4 kb mitochondrial DNA dele- tion. Nature genetics. 1: ) Van den Ouweland JMW, Lemkes HHPJ, Ruitenbeck W, Sandkuiji LA, Vijlder ME, Struyvenberg PAA, Kamp JJP and Maassen JA (1992) Mutation in mitochondrial trna 1.cu gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness. Nature genetics 1: ) Kadowaki H, Tobe K, Mori Y, Sakura H, Sakuta R, Nonaka I, Ilagura R, Yazaki Y, Akanuma Y, and Kadowaki T (1993) Mitochondrial gene mutation and insulin-deficient type of diabetes mellitus. Lancet, 341: ) Low PA (1987) Recent advances in the pathogenesis of diabetic neuropathy. Muscle and Nerve 10: ) Low PA (1991) Oxygen free radical effects in sciatic nerve in experimental diabetes. Diabetes, 40: ) McCord JM (1985) Oxygen-derived free radicals in posttschemic tissue injury. N. Eng. J. Med., 312: ) Kurosawa K, Hayashi N, Sato N, Kamada T and Tagawa K (1990) Transport of glutathione across the mitochondrial membranes. Brochem. Biophys, Res. Commun., 167: ) Ditzel J (1979) Homoglobin Alc and red cell oxygen release capacity in relation to early retinal changes in newly discovered overt and chemical diabetics, Metabolism, 28 (supple 1) :

6 Abstract A Case of Diabetes with Hearing Impairment and Severe Leg Pain Yoshihiko Suzuki*1,Kempei Matsuoka*1,Iliroko Kadowaki*2, Yasuo Akanuma*2 and Takashi Kadowaki*3 *1 Saiseikai Central Hospital,Tokyo *2 Institute for Diabetes Care and Research *3 Third Department of Internal Medicine,Asahi Life Foundation,Faculty of Medicine, University of Tokyo We report a 33-year-old diabetic woman with hearing impairment and severe leg pain.her mother,a sister and a brother also had hearing impairment. At the age of 30 years old,she developed hyperglycemic coma and was first diagnosed with diabetes.at that time,she began to notice decreased hearing acuity. After 3 months of glycemic control,she began to suffer from severe,sustained posttreatment painful neuropathy of the leg.six months later,retinopathy appeared.because of her short stature, abnormality on electro-cardiogram,high serum levels of lactate and pyruvate,and A to G transition at nucleotide 3243 in the mitochondrial trnaleu gene,she was diagnosed as having a new type of diabetes and hearing impairment due to mitochondrial DNA mutation. Unlike earlier reports,this case showed unique clinical features in that she had severe posttreatment painful neuropathy and early onset of retinopathy.it was speculated that the energy deficiency in nerve cells and retinal cells after a fall in blood glucose was accelerated or aggravated due to mitochondrial dysfunction. Thus,this mitochondrial mutation could not only cause underlying diabetes but also influence its complications.therefore,careful clinical observation is needed in treating patients with these symptoms.

8 The Bulletin of Meiji University of Integrative Medicine API II 61 ASO X 11 7 X-4 6 X m 5 X-2 4 X 3 9 X 11 7 API 0.84 ASO X 1 1 MR-angio

8 The Bulletin of Meiji University of Integrative Medicine API II 61 ASO X 11 7 X-4 6 X m 5 X-2 4 X 3 9 X 11 7 API 0.84 ASO X 1 1 MR-angio 7-14 2010 1 1 1 2 1 1 1 2 Fontaine II ASO61 3 API ASO ASO ASO API API KKKKKKKKKK ASO Fontaine II API Received April 14, 2009; Accepted July 16, 2009 I arteriosclerosis obliterans: ASO ASO 50 70 1,2 Fontaine