The mitochondrial DNA A3243G mutation in Portugal: Clinical and molecular studies in 5 families

Journal of the Neurological Sciences

Volumn 163, Issue 2, 1999, Pages 168-174

  Vilarinho, Laura ^a,b   Santorelli, Filippo M ^b,h,j,k   Coelho, Isabel ^c   Rodrigues, Lurdes ^c   Maia, Maria ^d   Barata, Isabel ^e   Cabral, Pedro ^e   Dionísio, Alexandre ^f   Costa, Alfredo ^i,j   Guimarães, António ^g   Dimauro, Salvatore ^b  

^a Pr Pedro Nunes Inst Genet M   (Portugal)

^b Coll Phys Surgs Columbia Univ ^*  (United States)

^c Hospital Senhora da Oliveira   (Portugal)

^d Hospital S Januário   (Portugal)

^e HOSPITAL DONA ESTEFÂNIA   (Portugal)

^f CENTRO HOSPITALAR E UNIVERSITÁRIO DE COIMBRA   (Portugal)

^g HOSPITAL DE SANTO ANTÓNIO   (Portugal)

^h SAPIENZA UNIVERSITY OF ROME   (Italy)

ⁱ UNIVERSITY OF PAVIA   (Italy)

^j C MONDINO NATIONAL NEUROLOGICAL INSTITUTE   (Italy)

^k IRCCS NEUROMED   (Italy)

more..

Author keywords

A3243G; MELAS; Mitochondrial DNA

Indexed keywords

MITOCHONDRIAL DNA;

ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; DIABETES MELLITUS; FEMALE; GENE MUTATION; GENETIC ANALYSIS; HUMAN; MALE; MELAS SYNDROME; MUSCLE BIOPSY; OPHTHALMOPLEGIA; PRIORITY JOURNAL;

ADOLESCENT; ADULT; CHILD; DNA, MITOCHONDRIAL; ELECTRON TRANSPORT COMPLEX IV; FEMALE; HUMANS; MALE; MELAS SYNDROME; MIDDLE AGED; MITOCHONDRIA, MUSCLE; MUSCLE, SKELETAL; OXYGEN CONSUMPTION; PEDIGREE; POINT MUTATION; PORTUGAL; RNA, TRANSFER, LEU;

EID: 0033104051     PISSN: 0022510X     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0022-510X(99)00030-1     Document Type: Article

References (22)

1. DiMauro S., Schon E.A. Mitochondrial DNA and diseases of the nervous system: the spectrum. The Neuroscientist. 4:(1):1998;53-63.
2. Pavlakis S.G., Phillips P.C., DiMauro S. Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: A distinctive clinical syndrome. Ann Neurol. 6:1984;481-488.
3. Goto Y.I., Nonaka I., Horai S. A mutation in the tRNALeu (UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies. Nature. 348:1990;651-653.
4. Van den Ouweland J.M.W., Lemkes H.H.P.J., Ruitenbeek W. Mutation in mitochondrial gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness. Nat Genet. 1:1992;368-371.
5. Moraes C.T., Ciacci F., Silvestri G., Shanske S., Sciacco M., Hirano M., Schon E.A., Bonilla E., DiMauro S. Atypical clinical presentations associated with the MELAS mutation at position 3243 of human mitochondrial DNA. Neuromusc Disord. 3:1993;43-50.
6. Vilarinho L., Santorelli F.M., Rosas M.J., Tavares C., Melo-Pires M., DiMauro S. The mitochondrial A3243G mutation presenting as severe cardiomyopathy. J Med Genet. 34:(7):1997;607-609.
7. Hirano M., Pavlakis S. Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS): current concepts. J Child Neurol. 9:1994;4-13.
8. Manfredi G., Schon E.A., Moraes C.T. A new mutation associated with MELAS is located in a mitochondrial DNA polypeptide-coding gene. Neuromusc Disord. 5:1995;391-398.
9. Campos Y., Garcia-Silva T., Barrionuevo C.R., Cabello A., Muley R., Arenas J. Mitochondrial deletion in a patient with mitochondrial myopathy, lactic acidosis and stroke-like episodes (MELAS) and Fanconi′s syndrome. Pediatr Neurol. 13:1995;1945-1949.
10. Santorelli F.M., Tanji K., Shanske S., Vilarinho L., Hays A.P., Sacco R.L., DiMauro S. Identification of a novel mutation in the mtDNA ND5 gene associated with MELAS. Biochem Biophys Res Commun. 238:(2):1997;326-328.
11. Vilarinho L., Santorelli F.M., Cardoso M.L., Coelho T., Guimarães A., Coutinho P. Mitochondrial DNA Analysis in Ocular Myopathy: Observations in 29 Portuguese Patients. Eur Neurol. 39:1998;148-153.
12. Vilarinho L., Maia C., Coelho T., Coutinho P., Santorelli F.M. Heterogeneous presentation in Leigh syndrome. J Inher Metab Dis. 20:1997;704-705.
13. Sparaco M., Bonilla E., DiMauro S., Powers J.M. Neuropathology of mitochondrial encephalopathies due to mitochondrial DNA defects. J Neuropathol Exp Neurol. 52:1993;1-10.
14. DiMauro S., Servidei S., Zeviani M., DiRocco M., DeVivo D.C., DiDonato S., Uziel G., Berry K., Hoganson G., Johnsen S.D., Johnson P.C. Cytochrome c oxidase in Leigh syndrome. Ann Neurol. 22:1987;498-506.
15. Zeviani M., Moraes C.T., DiMauro S., Nakase H., Bonilla E., Schon E.A. Deletions of mitochondrial DNA in Kearns-Sayre syndrome. Neurology. 38:1998;1339-1346.
16. Ciafaloni E., Ricci E., Shanske S., Moraes C.T., Silvestri G., Hirano M., Simonetti S., Angelini C., Donati M.A., Garcia C., Martinuzzi A., Mosewich R., Servidei S., Zammarchi E., Bonilla E., DeVivo D.C., Rowland L.P., Schon E.A., DiMauro S. MELAS: clinical features, biochemistry, and molecular genetics. Annals of Neurology. 31:(4):1992;391-397.
17. Goto Y.I., Horai S, Matsuoka T. Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes (MELAS): a Correlative Study of the Clinical Features and Mitochondrial DNA Mutation. Neurology. 42:1992;545-550.
18. Hammans S.R., Sweeney M.G., Hanna M.G. The mitochondrial DNA transfer RNALeu(UUR) A G 3243) mutation. A clinical and genetic study. Brain. 118:1995;721-734.
19. Koga Y., Matsuishi T., Yoshino M., Kato H. Am J Hum Genet. 57:1995;338.
20. DiMauro S., DeVivo D.C. Genetic heterogeneity in Leigh syndrome. Ann Neurol. 40:1996;5-7.
21. Jenuth J.P., Peterson A.C., Shoubridge E.A. Tissue-specific selection for different mtDNA genotype in heteroplasmic mice. Nat Genet. 16:(1):1997;93-95.
22. Shoubridge E.A., Johns T., Karpati G. Complete restoration of a wild-type mtDNA genotype in regenerating muscle fibres in a patient with a tRNA point mutation and mitochondrial encephalomyopathy. Hum Mol Genet. 6:(13):1997;2239-2242.