MITOCHONDRIAL DNA MUTATIONS IN TWO BULGARIAN CHILDREN WITH AUTISTIC SPECTRUM DISORDERS
Avdjieva-Tzavella D1,*, Mihailova S2, Lukanov C2, Naumova E2, Simeonov E3, Tincheva R1, Toncheva D4
*Corresponding Author: Dr. Daniela Avdjieva-Tzavella, Department of Clinical Genetics, University Pediatric Hospital, 11 Ivan Geshov str., Sofia 1606, Bulgaria; Tel.: +35928154341; E-mail: davdjieva@ yahoo.com
page: 47

REFERENCES

1. American Psychiatric Association. Diagnostic and Statistical Manual of Mental Disorders (DSM-IV). Washington DC: American Psychiatric Association, 1994. 2. Newschaffer CJ, Croen LA, Daniels J, Giarelli E, Grether JK, Levy SE, et al. The epidemiology of autism spectrum disorders. Annu Rev Public Health. 2007; 28: 235-258. 3. Abrahams BS, Geschwind DH. Advances in autism genetics: on the threshold of a new neurobiology. Nat Rev Genet. 2008; 9(5): 341-355. 4. Gargus JJ, Imtiaz F. Mitochondrial energy-deficient endophenotype in autism. Am J Biochem Biotech. 2008; 4(2): 198-207. 5. Rossignol DA, Bradstreet JJ. Evidence of mitochondrial dysfunction in autism and implications for treatment. Am J Biochem Biotech. 2008; 4(2): 208-217. 6. Palmieri L, Persico AM. Mitochondrial dysfunction in autism spectrum disorders: cause or effect? Biochim Biophys Acta. 2010; 1797(6- 7): 1130 -1137. 7. Pons R, Andreu AL, Checcarelli N, Vila MR, Engelstad K, Sue CM, et al. Mitochondrial DNA abnormalities and autistic spectrum disorders. J Pediatr. 2004; 144(1): 81-85. 8. Serajee FJ, Zhang H, Huq A. Prevalence of common mitochondrial point mutations in autism. Neuropediatrics. 2006; 37(Suppl 1): S127. 9. Graf WD, Marin-Garcia J, Gao HG, Pizzo S, Naviaux RK, Markusic D, et al. Autism associated with the mitochondrial DNA G8363A transfer RNA(Lys) mutation. J Child Neurol. 2000; 15(6): 357-361. 10. Weissman JR, Kelley RI, Bauman ML, Cohen BH, Murray KF, Mitchell RL, et al. Mitochondrial disease in autism spectrum disorder patients: a cohort analysis. PLoS One. 2008; 3(11): e3815. 11. Kent L, Lambert C, Pyle A, Elliott H, Wheelwright S, Baron-Cohen S, et al. The mitochondrial DNA A3243 A>G mutation must be an infrequent cause of Asperger syndrome. J Pediatr. 2006; 149(2): 280-281. 12. Álvarez-Iglesias V, Mosquera-Miguel A, Cuscó I, Carracedo Á, Pérez-Jurado LA, Salas A. Reassessing the role of mitochondrial DNA mutations in autism spectrum disorder. BMC Med Genet. 2011;12:50. 13. www.mitomap.org. 14. Ingman M, Gyllensten U. mtDB: Human Mitochondrial Genome Database, a resource for population genetics and medical sciences. Nucleic Acids Res. 2006; 34(Database issue): 749-751. 15. Giulivi C, Zhang Y-F, Omanska-Klusek A, Ross-Inta C, Wong S, Hertz-Picciotto I, et al. Mitochondrial dysfunction in autism. JAMA. 2010; 304(21): 2389-2396. 16. Oliveira G, Diogo L, GrazinaM, Garcia P, Ataide A, Marques C, et al. Mitochondrial dysfunction in autism spectrum disorders: a population-based study. Dev Med Child Neurol. 2005; 47(3): 185-189. 17. Rossignol DA, Frye RE. Mitochondrial dysfunction in autism spectrum disorders: a systematic review and meta-analysis. Mol Psychiatry. 2012; 17(3): 290-314. 18. Taylor RW, Barron MJ, Borthwick GM, Gospel A, Chinnery PF, Samuels DC, et al. Mitochondrial DNA mutations in human colonic crypt stem cells. J Clin Invest. 2003; 112(9): 1351-1360. 19. Bodemer C, Rötig A, Rustin P, Cormier V, Niaudet P, Saudubray JM, et al. Hair and skin disorders as signs of mitochondrial disease. Pediatrics. 1999; 103(2): 428-433. 20. Ezugha H, Goldenthal M, Valencia I, Anderson CE, Legido A, Marks H. 5q14.3 deletion manifesting as mitochondrial disease and autism: case report. J Child Neurol. 2010; 25(10): 1232-1235. 21. Tsao CY, Mendell JR. Autistic disorder in 2 children with mitochondrial disorders. J Child Neurol. 2007; 22(9): 1121-1123. 22. Oliveira G, Ataide A, Marques C, Miguel TS, Coutinho AM, Mota-Vieira L, et al. Epidemiology of autism spectrum disorder in Portugal: prevalence, clinical characterization, and medical conditions. Dev Med Child Neurol. 2007; 49(10): 726-733. 23. Filiano JJ, Goldenthal MJ, Rhodes CH, Marin- Garcia J. Mitochondrial dysfunction in patients with hypo-tonia, epilepsy, autism, and developmental delay: HEADD syndrome. J Child Neurol. 2002; 17(6): 435-439. 24. Anderson MP, Hooker BS, Herbert MR. Bridging from cells to cognition in autism pathophysiology: biological pathways to defective brain function and plasticity. Am J Biochem Biotechnol. 2008; 4(2): 167-176. 25. Herlenius E, Lagercrantz H. Development of neurotransmitter systems during critical periods. Exp Neurol 2004; 190(Suppl 1): S8-S21. 26. Pastural E, Ritchie S, Lu Y, Jin W, Kavianpour A, Khine Su-Myat K, et al. Novel plasma phospholipid biomarkers of autism: mitochondrial dysfunction as a putative causative mechanism. Prostaglandins Leukot Essent Fatty Acids. 2009; 81(4): 253-264. 27. Ben-Shachar D. Mitochondrial dysfunction in schi-zophrenia: a possible linkage to dopamine. J Neurochem. 2002; 83(6): 1241-1251.



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