Mitochondrial DNA abnormalities and autistic spectrum disorders

Journal of Pediatrics

Volumn 144, Issue 1, 2004, Pages 81-85

  Pons, Roser ^b   Andreu, Antoni L ^b   Checcarelli, Nicoletta ^b   Vilà, Maya R ^b   Engelstad, Kristin ^b   Sue, Carolyn M ^b   Shungu, Dikoma ^b   Haggerty, Rita ^b   De Vivo, Darryl C ^b   DiMauro, Salvatore ^a  

^a 4 420 Coll of Phys and Surgeons ^*  (United States)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL DNA;

ADOLESCENT; ARTICLE; AUTISM; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE ASSOCIATION; DNA DETERMINATION; DNA ISOLATION; FAMILY HISTORY; FEMALE; GENE MUTATION; HUMAN; MALE; MITOCHONDRIAL DNA DEPLETION; NERVE CELL DIFFERENTIATION; NUCLEAR MAGNETIC RESONANCE SPECTROSCOPY; PRIORITY JOURNAL; SKELETAL MUSCLE;

EID: 9144239818     PISSN: 00223476     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jpeds.2003.10.023     Document Type: Article

References (28)

1. Folstein SE, Rosen-Sheidley B. Genetics of autism: complex etiology for a heterogeneous disorder. Nature Rev Genet 2001;2:943-55.
2. Piven J. The biological basis of autism. Curr Opin Neurobiol 1997; 7:708-12.
3. Rapin I. Autism in search of a home in the brain. Neurology 1999; 52:902-4.
4. Minshew NJ, Goldstein G, Dombrowski SM, Panchalingam K, Pettegrew JW. A preliminary 31P MRS study of autism: evidence for undersynthesis and increased degradation of brain membranes. Biol Psychiatry 1993;33:762-73.
5. Lazlo A, Horvath E, Eck E, Fekete M. Serum serotonin, lactate and pyruvate levels in infantile autistic children. Clin Chim Acta 1994;229:205-7.
6. Chugani DC, Sundram BS, Behen M, Lee M-L, Moore GJ. Evidence of altered energy metabolism in autistic children. Prog Neuropsychopharmacol Biol Psychiat 1999;23:635-41.
7. DiMauro S, Schon EA. Mitochondrial respiratory-chain diseases. N Engl J Med 2003;348:2656-68.
8. Moraes CT, Ciacci F, Silvestri G, Shanske S, Sciacco M, Hirano M, et al. Atypical clinical presentations associated with the MELAS mutation at position 2343 of human mitochondrial DNA. Neuromusc Disord 1993;3: 43-50.
9. Sue CM, Bruno C, Andreu AL, Cargan A, Mendell JR, Tsao C, et al. Infantile encephalopathy associated with the MELAS A3243G mutation. J Pediatr 1999;134:696-700.
10. Mandel H, Szargel R, Labay V, Elpeleg O, Saada A, Shalata A, et al. The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA. Nat Genet 2001;29:337-41.
11. Saada A, Shaag A, Mandel H, Nevo Y, Eriksson S, Elpeleg O. Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy. Nat Genet 2001;29:342-4.
12. Diagnostic and Statistical Manual of Mental Disorders. Washington, DC: American Psychiatric Association, 1994.
13. DiMauro S, Servidei S, Zeviani M, DiRocco M, De Vivo DC, DiDonato S, et al. Cytochrome c oxidase deficiency in Leigh syndrome. Ann Neurol 1987;22:498-506.
14. Goto Y, Tojo M, Tohyama J, Horai S, Nonaka I. A novel point mutation in the mitochondrial tRNALeu(UUR) gene in a family with mitochondrial myopathy. Ann Neurol 1992;31:672-5.
15. Vu TH, Sciacco M, Tanji K, Nichter C, Bonilla E, Chatkup S, et al. Clinical manifestations of mitochondrial DNA depletion. Neurology 1998;50:1783-90.
16. Mancuso M, Salviati L, Sacconi S, Otaegui D, Camano P, Marina A, et al. Mitochondrial DNA depletion. Mutations in thymidine kinase gene with myopathy and SMA. Neurology 2002;59:1197-202.
17. Salviati L, Sacconi S, Mancuso M, Otaegui D, Camano P, Marina A, et al. Mitochondrial DNA depletion and dGK gene mutations. Ann Neurol 2002;52:311-7.
18. DeLong GR. Autism: new data suggest a new hypothesis. Neurology 1999;52:911-6.
19. Marin-Garcia J, Ananthakrishnan R, Goldenthal MJ, Filiano JJ, Sarnat HB. Skeletal muscle mitochondrial defects in nonspecific neurologic disorders. Pediatr Neurol 1999;21:538-42.
20. Graf WD, Marin-Garcia J, Gao HG, Pizzo S, Nariaux RK, Markusic D, et al. Autism associated with the mitochondrial DNA G8363A transfer RNALys mutation. J Child Neurol 2000;15:357-61.
21. Filiano JJ, Goldenthal MJ, Rhodes CH, Marin-Garcia J. Mitochondrial dysfunction in patients with hypotonia, epilepsy, autism, and developmental delay: HEADD syndrome. J Child Neurol 2002;17:435-9.
22. Chinnery P, Howell N, Lightowlers R, Turnbull D. The relationship between mutation load and clinical phenotypes. Brain 1997;120: 1713-21.
23. Chinnery PF, Zwijnenburg PJ, Walker M, Howell N, Taylor RW, Lightowlers RN, et al. Nonrandom tissue distribution of mutant mtDNA. Am J Med Genet 1999;85:498-501.
24. Kemper TL, Bauman ML. Neuropathology of infantile autism. Mol Psychiatry 2002;7(Suppl 2):S12-3.
25. Bailey A, Luthert P, Dean A, Harding B, Janata I, Montgomery M, et al. A clinicopathological study of autism. Brain 1998;121:889-905.
26. Thomeer EC, Verhoeven WM, van de Vlasakker CJ, Klompenhouwer JL. Psychiatric symptoms in MELAS: a case report. J Neurol Neurosurg Psychiat 1998;64:692-3.
27. DiMauro S, Schon EA. Mitochondrial DNA and diseases of the nervous system: the spectrum. Neuroscientist 1998;4:53-63.
28. Kaufmann P, Sano MC, Jhung S, Engelstadt K, De Vivo DC. Psychiatric symptoms are common features of clinical syndromes associated with mitochondrial DNA point mutations [abstract]. Neurology 2002; 58:315.