G8363A mitochondrial DNA mutation is not a rare cause of Leigh syndrome - Clinical, biochemical and pathological study of an affected child

Folia Neuropathologica

Volumn 45, Issue 4, 2007, Pages 187-191

  Pronicki, Maciej ^a   Sykut Cegielska, Jolanta ^a   Matyja, Ewa ^b   Musialowicz, Jacek ^c   Karczmarewicz, Elzbieta ^a   Tonska, Katarzyna ^d   Piechota, Janusz ^d   Piekutowska Abramczuk, Dorota ^a   Kowalski, Pawel ^a   Bartnik, Ewa ^d,e  

^a CHILDREN'S MEMORIAL HEALTH INSTITUTE   (Poland)

^b POLISH ACADEMY OF SCIENCES   (Poland)

^c Voivodship Hospital   (Poland)

^d UNIVERSITY OF WARSAW   (Poland)

^e INSTITUTE OF BIOCHEMISTRY AND BIOPHYSICS   (Poland)

Author keywords

COX deficiency; G8363 tRNA lys mutation; LS; MERRF like mutation; mtDNA

Indexed keywords

BICARBONATE; CROMOGLYCATE DISODIUM; CYTOCHROME C OXIDASE; MITOCHONDRIAL DNA; PROPRANOLOL; PROSTAGLANDIN SYNTHASE;

ACID BASE BALANCE; ANOREXIA; ARTICLE; AUTOPSY; BRONCHUS OBSTRUCTION; CASE REPORT; CLINICAL FEATURE; COUGHING; DEHYDRATION; DIFFERENTIAL DIAGNOSIS; GENE MUTATION; HEART LEFT VENTRICLE HYPERTROPHY; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; HYPERLACTATEMIA; LABORATORY TEST; LACTIC ACIDEMIA; LEIGH DISEASE; MALE; MERRF SYNDROME; METABOLIC ACIDOSIS; MUSCLE BIOPSY; MUSCLE WEAKNESS; PRESCHOOL CHILD; RESPIRATORY ALKALOSIS; RESPIRATORY CHAIN; SOMNOLENCE; TACHYPNEA; ULTRASTRUCTURE;

EID: 38549181984     PISSN: 16414640     EISSN: 1509572X     Source Type: Journal    
DOI: None     Document Type: Article

References (14)

1. Arenas J, Campos Y, Bornstein B, Ribacoba R, Martin MA, Rubio JC, Santorelli FM, Zeviani M, DiMauro S, Garesse R. A double mutation (A8296G and G8363A) in the mitochondrial DNA tRNA (Lys) gene associated with myoclonus epilepsy with ragged-red fibers. Neurology 1999; 52: 377-382.
2. Böhm M, Pronicka E, Karczmarewicz E, Pronicki M, Piekutowska-Abramczuk D, Sykut-Cegielska J, Mierzewska H, Hansikova H, Vesela K, Tesarova M, Houstkova H, Houstek J, Zeman J. Retrospective, multicentric study of 180 children with cytochrome C oxidase deficiency. Pediatr Res 2006; 59: 21-26.
3. Graf WD, Marin-Garcia J, Gao HG, Pizzo S, Naviaux RK, Markusic D, Barshop BA, Courchesne E, Haas RH. Autism associated with the mitochondrial DNA G8363A transfer RNA(Lys) mutation. J Child Neurol 2000; 15: 357-361.
4. Karczmarewicz E, Bietecka L, Kulczycka H, Lorenc LS, Pronicka E. Analytical reliability of spectrophotpmetric analysis of the activity of mitochondrial respiratory chain complexes in muscle homogenates. Diagn lab 1997; 33: 493-503.
5. Leigh D. Subacute necrotizing encephalomyelopathy in an infant. J Neurol Neurosurg Psychiatry 1951; 14: 216-221.
6. Ozawa M, Nishino I, Horai S, Nonaka I, Goto YI. Myoclonus epilepsy associated with ragged-red fibers: a G-to-A mutation at nucleotide pair 8363 in mitochondrial tRNA(Lys) in two families. Muscle Nerve 1997; 20: 271-278.
7. Piekutowska-Abramczuk D, Popowska E, Pronicka E, Karczmarewicz E, Pronicki M, Kmieć T, Krajewska-Walasek M. SURF1 gene mutations in Polish patients with COX-deficient Leigh syndrome. J Appl Genet 2001; 42: 103-108.
8. Pineda M, Solano A, Artuch R, Andreu AL, Playan A, Vilaseca MA, Colomer J, Briones P, Casademont J, Montoya J. Peripheral neuropathy with ataxia in childhood as a result of the G8363A mutation in mitochondrial DNA. Pediatr Res 2004; 56: 55-59.
9. Pronicka E, Halikowski B. Metabolic acidosis versus a compensation of respiratory alkalosis in four children with Leigh's disease. J Inherit Metab Dis 1984; 7 (Suppl 2): 113-114.
10. Pronicka E, Piekutowska-Abramczuk D, Popowska E, Pronicki M, Karczmarewicz E, Sykut-Cegielska J, Taybert J. Compulsory hyperventilation and hypocapnia of patients with Leigh syndrome associated with SURF1 gene mutations as a cause of low serum bicarbonate. J Inherit Metab Dis 2001; 24: 707-714.
11. Pronicka E, Pronicki M, Popowska E, Piekutowska-Abramczuk D, Karczmarewicz E, Mierzewska H, Tonska K, Piechota J, Bartnilk E. COX-deficient Leigh syndrome in a child carrying G8363A mutation in the mtDNA tRNA (lys) gene. J Inherit Metab Dis 2003; 26 (Suppl 2): 117.
12. Santorelli FM, Mak SC, El-Schahawi M, Casali C, Shanske S, Baram TZ, Madrid RE, DiMauro S. Maternally inherited cardiomyopathy and hearing loss associated with a novel mutation in the mitochondrial tRNA(Lys) gene (G8363A). Am J Hum Genet 1996; 58: 933-939.
13. Shtilbans A, Shanske S, Goodman S, Sue CM, Bruno C, Johnson TL, Lava NS, Waheed N, DiMauro S. G8363A mutation in the mitochondrial DNA transfer ribonucleic acidLys gene: another cause of Leigh syndrome. J Child Neurol 2000; 15: 759-761.
14. Wong LJ, Wong H, Liu A. Intergenerational transmission of pathogenic heteroplasmic mitochondrial DNA. Genet Med 2002; 4: 78-83.