Brief report: High frequency of biochemical markers for mitochondrial dysfunction in autism: No association with the mitochondrial aspartate/glutamate carrier SLC25A12 gene

Journal of Autism and Developmental Disorders

Volumn 36, Issue 8, 2006, Pages 1137-1140

  Correia, Catarina ^a   Coutinho, Ana M ^a   Diogo, Luísa ^b   Grazina, Manuela ^c   Marques, Carla ^b   Miguel, Teresa ^d   Ataíde, Assunção ^d   Almeida, Joana ^b   Borges, Luís ^b   Oliveira, Catarina ^c   Oliveira, Guiomar ^b   Vicente, Astrid M ^a,e  

^a INSTITUTO GULBENKIAN DE CIÊNCIA   (Portugal)

^b CENTRO HOSPITALAR E UNIVERSITÁRIO DE COIMBRA   (Portugal)

^c UNIVERSITY OF COIMBRA   (Portugal)

^d Ministero da Agricultura do Desenvolvimento Rural e das Pescas Portugal   (Portugal)

^e NATIONAL INSTITUTE OF HEALTH DR RICARDO JORGE   (Portugal)

Author keywords

Autism; Genetic Association; Lactate Pyruvate Ratio; Mitochondrial Dysfunction; SLC25A12 Gene

Indexed keywords

BIOCHEMICAL MARKER; LACTIC ACID; PYRUVIC ACID;

ARTICLE; AUTISM; CONTROLLED STUDY; CORRELATION ANALYSIS; DISORDERS OF MITOCHONDRIAL FUNCTIONS; GENE; GENETIC ASSOCIATION; GENETIC VARIABILITY; HETEROZYGOTE; HUMAN; MAJOR CLINICAL STUDY; MITOCHONDRION; NUCLEAR FAMILY; PRIORITY JOURNAL; SLC25A12 GENE;

EID: 33845912666     PISSN: 01623257     EISSN: 15733432     Source Type: Journal    
DOI: 10.1007/s10803-006-0138-6     Document Type: Article

References (12)

1. Bernier, F. P., Boneh, A., Dennett, X., Chow, C. W., Cleary, M. A., & Thorburn, D. R. (2002). Diagnostic criteria for respiratory chain disorders in adults and children. Neurology, 59(9), 1406-1411.
2. Chugani, D. C, Sundram, B. S., Behen, M., Lee, M., & Moore, G. J. (1999). Evidence of altered energy metabolism in autistic children. Progress in Neuro-Psychopharmacology & Biological Psychiatry, 23, 635-641.
3. Filipek, A. P., Juranek, J., Smith, M., Mays, Z. L., Ramos, R. E., Bocian, M., Masser-Frye, D., Laulhere, M. T., Mdahl, C., Spence, A., & Gargus, J. J. (2003). Mitochondrial dysfunction in autistic patients with 15q inverted duplication. Annals of Neurology, 53, 801-804.
4. Folstein, S. E., & Rosen-Sheidley, B. (2001). Genetics of autism: Complex aetiology for a heterogeneous disorder. Nature Reviews/Genetics, 2, 943-955.
5. Graf, W. D., Marin-Garcia, J., Gao, H. G., Pizzo, S., Nariaux, R. K., Markusic, D., Barshop, B. A., Courchesne, E., & Haas, R. H. (2000). Autism associated with mitochondrial DNA G8363A transfer RNA (Lys) mutation. Journal of Child Neurology, 15, 357-361.
6. Laszlo, A., Horvath, E., Eck, E., Fekete, M. (1994). Serum serotonin, lactate and pyruvate levels in infantile autistic children. Clinica Chimica Acta, 229(1-2), 205-207.
7. Lombard, J. (1998). Autism: a mitochondrial disorder? Medical Hypotheses, 50, 497-500.
8. Oliveira, G., Diogo, L., Grazina, M., Garcia, P., Borges, L., Vicente, A. M., & Oliveira, C. R. (2005). Mitochondrial dysfunction in autism spectrum disorders. Developmental Medicine and Child Neurology, 47(3), 185-189.
9. Palmieri, L., Pardo, B., Lasorsa, F.M., del Arco, A., Kobayashi, K., Iijima, M., Runswick, M. J., Walker, J. E., Saheki, T., Satrustegui, J., & Palmieri, F. (2001). Citrin and aralar1 are Ca(2+)-stimulated aspartate/glutamate transporters in mitochondria. The EMBO Journal, 20(18), 5060-5069.
10. Pons, R., Andreu, A. L., Checcarelli, N., Vila, M. R., Engelstad, K., Sue, C. M., Shungu, D., Haggerty, R., de Vivo, D. C., & DiMauro, S. (2004). Mitochondrial DNA abnormalities and autistic spectrum disorders. Journal of Pediatrics, 144, 81-85.
11. Ramoz, N., Reichert, J. G., Smith, C. J., Silverman, J. M., Bespalova, I. N., Davis, K. L., & Buxbaum J. D. (2004). Linkage and association of the mitochondrial aspartate/glutamate carrier SLC25A12 gene with autism. The American Journal of Psychiatry, 161, 662-669.
12. Vassault, A., Bonnefont, J. P., Specola, N., & Saudubray, J. M. (1991). Lactate, pyruvate and ketones bodies. In F. A. Hommes, (Ed.), Techniques in diagnostic human biochemical genetics: A laboratory manual (pp. 285-308). New York: Wiley-Liss.