The expanding clinical phenotype of the tRNALeu(UUR) A→G mutation at np 3243 of mitochondrial DNA: Diabetic embryopathy associated with mitochondrial cytopathy

American Journal of Medical Genetics - Seminars in Medical Genetics

Volumn 62, Issue 4, 1996, Pages 404-409

  Feigenbaum, Annette ^a   Chitayat, David ^a   Robinson, Brian ^a   MacGregor, Daune ^a   Myint, Tomoko ^a   Arbus, Gerald ^a   Nowaczyk, Margaret J M ^a  

^a HOSPITAL FOR SICK CHILDREN   (Canada)

Author keywords

Anal atresia; Caudal regression; Diabetes mellitus; Diabetic embryopathy; MELAS; Mitochondria; Seizures

Indexed keywords

MITOCHONDRIAL DNA;

ADULT; ANUS ATRESIA; ARTICLE; CASE REPORT; CONGENITAL MALFORMATION; DEVELOPMENTAL DISORDER; DIABETES MELLITUS; EMBRYOPATHY; FEMALE; GENE MUTATION; HUMAN; INTRACTABLE EPILEPSY; KIDNEY DYSPLASIA; KIDNEY POLYCYSTIC DISEASE; MALE; MELAS SYNDROME; NEWBORN; PEDIGREE; PHENOTYPE; PRIORITY JOURNAL; TWINS;

ABNORMALITIES, MULTIPLE; ADENINE; ADULT; ANUS, IMPERFORATE; BASE SEQUENCE; DNA, MITOCHONDRIAL; FEMALE; GUANINE; HUMANS; INFANT, NEWBORN; KIDNEY; MALE; MELAS SYNDROME; MIDDLE AGED; MOLECULAR SEQUENCE DATA; PHENOTYPE; POINT MUTATION; PREGNANCY; PREGNANCY IN DIABETICS; RNA, TRANSFER, LEU;

EID: 0029971235     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19960424)62:4<404::AID-AJMG14>3.0.CO;2-S     Document Type: Article

References (32)

1. Campos Y, Bautista J, Gutierrez-Rivas E, Llabres J, Lorenzo G. Arenas J (1994): Variable clinical expression associated with the mutation 3243 np of mitochondrial DNA. J Inher Metab Dis 17: 634-635.
2. Damian MS, Seibel P, Schachenmayr W, Reichmann H, Dorndorf W (1996): VACTERL with the mitochondrial np 3243 point mutation. Am J Med Genetics 62:398-403.
3. Dougherty FE, Ernst SG, Aprille JR (1994): Familial recurrence of atypical symptoms in an extended pedigree with the syndrome of mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS). J Pediatr 125:758-761.
4. Erikkson UJ, Borg LAH (1991): Protection by free oxygen radical scavenging enzymes against glucose induced embryonic malformations in vitro. Diabetologia 34:325-331.
5. Erikkson UJ, Borg LAH (1993): Diabetes and embryonic malformations. Role of substrate-induced free-oxygen radical production for dysmorphogenesis in cultured rat embryos. Diabetes 42:411-419.
6. Eriksson UJ, Borg LAH, Hagay Z, Groner Y (1993): Increased superoxide dismutase (SOD) activity in embryos of transgenic mice protects against the teratogenic effects of a diabetic environment. Diabetes 42:85A.
7. Eriksson UJ (1995): The pathogenesis of congenital malformations in diabetic pregnancy. Diabetes-Metabolism Rev 11:63-82.
8. Garner P (1995): Type I diabetes mellitus and pregnancy. Lancet 346: 157-161.
9. Goldman AS, Baker L, Piddington R, Marx B, Herold R, Egler J (1985): Hyperglycemia-induced teratogenesis is mediated by a functional deficiency of arachidonic acid Proc Natl Acad Sci USA 82:8227-8231.
10. Goto Y, Nonaka I, Horai S (1990): A mutation in the tRNA Leu(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies, Nature 348:651-653.
11. Goto MP, Goldman AS (1994): Diabetic embryopathy. Current Opinion Pediatr 6:486-491.
12. Horton WE, Sadler TW (1985): Mitochondrial alterations in embryos exposed to β-hydroxybutyrate in whole embryo culture. Anat Rec 213:94-101.
13. Kadowaki T, Kadowaki H, Mori Y, Tobe K, Sakuta R, Suzuki Y, Tanabe Y, Sakura H, Awata T, Goto YI, Hayakawa T, Matsuoka K, Kawamori R, Kamada T, Horai S, Nonaka I, Hagura R, Akanuma Y, Yazaki Y (1994): A subtype of diabetes mellitus associated with a mutation of mitochondrial DNA. New Engl J Med 330:962-968.
14. Kobayashi M, Morishita H, Sugiyama N, Yokochi K, Nakano M, Wada Y, Hotta Y, Terauchi A, Nonaka I (1986): Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes syndrome and NADH-CoQ reductase deficiency. J Inher Metab Dis 9:301-304.
15. Kobayashi Y, Momoi MY, Tominaga K, Shimoizumi H, Nihei K, Yanagisawa M, Kagawa Y, Ohta S (1991): Respiration-deficient cells are caused by a single point mutation in the mitochondrial tRNA-Leu(UUR) gene in mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS). Am J Hum Gen 49:590-599.
16. Koo B, Becker LE, Chuang S, Merante F, Robinson BH, MacGregor D, Tein I, Ho VB, McGreal DA, Wherrett JR, Logan WJ (1993): Mitochondrial encephalomyopathy, lactic acidosis, stroke-like episodes (MELAS): Clinical, radiological, pathological, and genetic observations. Ann Neurol 34:25-32.
17. Kučera J (1971): Rate and type of congenital anomalies among offspring of diabetic women. J Reprod Med 7:61-70.
18. Miyabayashi S, Hanamizu H, Nakamura R, Hayashi JI, Tada K (1993): Clinical and biochemical phenotype of the MELAS mutation. J Inher Metab Dis 16:886-892.
19. Moraes CT, Ciacci F, Silvestri G, Shanske S, Sciacco M, Hirano M, Schon EA, Bonella E, DiMauro S (1993): Atypical clinical presentations associated with the MELAS mutation at position 3243 of human mitochondrial DNA. Neuromusc Disord 3.43-50.
20. Myers RE (1981): Brain damage due to asphyxia: mechanism of causation. J Perinatal Med 9:78-86.
21. Odawara M, Sasaki K, Yamashita K (1995): Prevalence and clinical characterization of Japanese diabetes mellitus with an A-to-G mutation at nucleotide 3243 of the mitochondrial tRNA(Leu(UUR)) gene. J Clin Endocrinol Metab 80:1290-1294.
22. Opitz JM (1993): Blastogenesis and the "primary field" defect in human development. BD:OAS 29:3-37.
23. Pavlakis SG, Phillips PC, DiMauro S, De Vivo DC, Rowland LP (1984): Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke like episodes: a distinctive clinical syndrome. Ann Neur 16: 481-488.
24. Remes AM, Majamaa K, Herva R, Hassinen IE (1993): Adult-onset diabetes mellitus and neurosensory hearing loss in maternal relatives of MELAs patients in a family with the tRNA(Leu(UUR)) mutation. Neurology 43:1015-1020.
25. Rosenn B, Miodovnik M, Combs CA, Khoury J, Siddiqi TA (1994): Glycemic thresholds for spontaneous abortion and congenital malformations in insulin-dependent diabetes mellitus. Obstet Gynecol 84:515-520.
26. Sato W, Tanaka M, Sugiyama S, Nemoto T, Harada K, Miura Y, Kobayashi Y, Goto A, Takada G, Ozawa T (1994): Cardiomyopathy and angiopathy in patients with mitochondial myopathy, encephalopathy, lactic acidosis, and strokelike episodes. Am Heart J 128:733-741.
27. Shanske AL, Shanske S, Silvestri G, Tanji K, Wertheim D, Lipper S (1993): MELAS point mutation with unusual clinical presentation. Neuromusc Disord 3:191-193.
28. Shoffner J, Wallace D (1995): Oxidative Phosphorylation Diseases. In Scriver CR, Beaudet AL, Sly WS, Valle D (eds): "The Metabolic and Molecular Bases of Inherited Disease." New York: McGraw-Hill, pp 1535-1609.
29. Steel JM, Johnstone FD, Hepburn DA, Smith AF (1990): Can prepregnancy care of diabetic women reduce the risk of abnormal babies? Br Med J 301:1070-1074.
30. van den Ouweland JMW, Lemkes HHPJ, Ruitenbeek W, Sandkuijl LA, de Vijlder MF, Struyvenberg PAA, van de Kamp JJP, Maassen JA (1992): Mutation in mitochondrial tRNA(Leu(UUR)) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness. Nat Genet 1:368-371.
31. Warram JH, Krolewski AS, Khan CR (1988): Determinants of IDDM and perinatal mortality in children of diabetic mothers. Diabetes 37:1328-1334.
32. Yang X, Borg LAH, Eriksson UJ (1995): Altered mitochondrial morphology of rat embryos in diabetic pregnancy. Anat Rec 241: 255-267.