Impaired mitochondrial glutamate transport in autosomal recessive neonatal myoclonic epilepsy

American Journal of Human Genetics

Volumn 76, Issue 2, 2005, Pages 334-339

  Molinari, Florence ^a   Raas Rothschild, Annick ^b   Rio, Marlène ^a   Fiermonte, Giuseppe ^c   Encha Razavi, Ferechté ^a   Palmieri, Luigi ^c,d   Palmieri, Ferdinando ^c,d   Ben Neriah, Ziva ^b   Kadhom, Noman ^a   Vekemans, Michel ^a   Attié Bitach, Tania ^a   Munnich, Arnold ^a   Rustin, Pierre ^a   Colleaux, Laurence ^a  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

^c UNIVERSITY OF BARI   (Italy)

^d CNR   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

GLUTAMATE TRANSPORTER; GLUTAMIC ACID; MUTANT PROTEIN;

AMINO ACID METABOLISM; AMINO ACID TRANSPORT; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; BRAIN; CHROMOSOME 11P; CONTROLLED STUDY; ELECTROENCEPHALOGRAM; FEMALE; GENE MAPPING; HUMAN; HUMAN CELL CULTURE; MALE; MISSENSE MUTATION; MITOCHONDRION; MYOCLONUS EPILEPSY; MYOCLONUS SEIZURE; NUCLEOTIDE SEQUENCE; OXIDATION; PATHOPHYSIOLOGY; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEOLIPOSOME; SKIN FIBROBLAST;

EID: 19944434207     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/427564     Document Type: Article

References (21)

1. Aicardi J (1992) Early myoclonic encephalopathy. In: Roger J, Bureau M, Dravet C, Dreifuss FE, Perret A, Wolf P (eds) Epileptic syndromes in infancy, childhood and adolescence, 2nd ed. John Libbey, London, pp 13-23
2. Aicardi J, Goutières F (1978) [Neonatal myoclonic encephalopathy.] Rev Electroencephalogr Neurophysiol Clin 8:99-101
3. Clements JR, Monaghan PL, Beitz AJ (1987) An ultrastructural description of glutamate-like immunoreactivity in the rat cerebellar cortex. Brain Res 421:343-348
4. Degoul F, Diry M, Rodriguez D, Robain O, Francois D, Ponsot G, Marsac C, Desguerre I (1995) Clinical, biochemical, and molecular analysis of a maternally inherited case of Leigh syndrome (MILS) associated with the mtDNA T8993G point mutation. J Inherit Metab Dis 18:682-688
5. Depaulis A, Vergnes M, Marescaux C (1994) Endogenous control of epilepsy: the nigral inhibitory system. Prog Neurobiol 42:33-52
6. Deransart C, Le-Pham BT, Hirsch E, Marescaux C, Depaulis A (2001) Inhibition of the substantia nigra suppresses absences and clonic seizures in audiogenic rats, but not tonic seizures: evidence for seizure specificity of the nigral control. Neuroscience 105:203-211
7. During MJ, Spencer DD (1993) Extracellular hippocampal glutamate and spontaneous seizure in the conscious human brain. Lancet 341:1607-1610
8. Fiermonte G, Palmieri L, Todisco S, Agrimi G, Palmieri F, Walker JE (2002) Identification of the mitochondrial glutamate transporter: bacterial expression, reconstitution, functional characterization, and tissue distribution of two human isoforms. J Biol Chem 277:19289-19294
9. Fiermonte G, Walker J, Palmieri F (1993) Abundant bacterial expression and reconstitution of an intrinsic membrane-transport protein from bovine mitochondria. Biochem J 294:293-299
10. Leu(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies. Nature 348:651-653
11. Guerrini R, Sicca F, Parmeggiani L (2003) Epilepsy and malformations of the cerebral cortex. Epileptic Disord (Suppl 2) 5:S9-S26
12. Harding BN, Boyd SG (1991) Intractable seizures from infancy can be associated with dentato-olivary dysplasia. J Neurol Sci 104:157-165
13. Ohtsuka Y, Oka E, Terasaki T, Ohtahara S (1993) Aicardi syndrome: a longitudinal clinical and electroencephalographic study. Epilepsia 34:627-634
14. Palmieri F (2004) The mitochondrial transporter family (SLC25): physiological and pathological implications. Pflugers Arch 447:689-709
15. Palmieri F, Indiveri C, Bisaccia F, Iacobazzi V (1995) Mitochondrial metabolite carrier proteins: purification, reconstitution, and transport studies. Methods Enzymol 260:349-369
16. 2+-regulated mitochondrial aspartate-glutamate carrier aralarl in brain and prominent expression in the spinal cord. Brain Res Dev Brain Res 143:33-46
17. Robain O, Dulac O (1992) Early epileptic encephalopathy with suppression bursts and olivary-dentate dysplasia. Neuropediatrics 23:162-164
18. Trinka E, Rauscher C, Nagler M, Moroder T, Ladurner G, Irnberger E, Sperl W, Pilz P (2001) A case of Ohtahara syndrome with olivary-dentate dysplasia and agenesis of mamillary bodies. Epilepsia 42:950-953
19. Vigevano F, Bartuli A (2002) Infantile epileptic syndromes and metabolic etiologies. J Child Neurol (Suppl 3) 17:S9-S13
20. Wallace DC, Zheng XX, Lott MT, Shoffner JM, Hodge JA, Kelley RI, Epstein CM, Hopkins LC (1988) Familial mitochondrial encephalomyopathy (MERRF): genetic, pathophysiological, and biochemical characterization of a mitochondrial DNA disease. Cell 55:601-610
21. Zhang N, Walberg F, Laake JH, Meldrum BS, Ottersen OP (1990) Aspartate-like and glutamate-like immunoreactivities in the inferior olive and climbing fibre system: a light microscopic and semiquantitative electron microscopic study in rat and baboon (Papio anubis). Neuroscience 38:61-80