Have a personal or library account? Click to login
Mitochondrial DNA Mutations in two Bulgarian Children with Autistic Spectrum Disorders Cover

Mitochondrial DNA Mutations in two Bulgarian Children with Autistic Spectrum Disorders

Balkan Journal of Medical Genetics
Volume 15 (2012): Issue 2 (December 2012)
By: D. Avdjieva-Tzavella,  S. Mihailova,  C. Lukanov,  E. Naumova,  E. Simeonov,  R. Tincheva and  D. Toncheva  
Open Access
|Apr 2013

References

  1. 1. American Psychiatric Association. Diagnostic and Statistical Manual of Mental Disorders (DSM-IV). Washington DC: American Psychiatric Association, 1994.
    Search in Google Scholar
  2. 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: 235-258.10.1146/annurev.publhealth.28.021406.14400717367287
    Search in Google Scholar
  3. 3. Abrahams BS, Geschwind DH. Advances in autism genetics: on the threshold of a new neurobiology. Nat Rev Genet. 2008; 9(5): 341-355.10.1038/nrg2346275641418414403
    Search in Google Scholar
  4. 4. Gargus JJ, Imtiaz F. Mitochondrial energy-deficient endophenotype in autism. Am J Biochem Biotech. 2008; 4(2): 198-207.10.3844/ajbbsp.2008.198.207
    Search in Google Scholar
  5. 5. Rossignol DA, Bradstreet JJ. Evidence of mitochondrial dysfunction in autism and implications for treatment. Am J Biochem Biotech. 2008; 4(2): 208-217.10.3844/ajbbsp.2008.208.217
    Search in Google Scholar
  6. 6. Palmieri L, Persico AM. Mitochondrial dysfunction in autism spectrum disorders: cause or effect? Biochim Biophys Acta. 2010; 1797(6-7): 1130 -1137.10.1016/j.bbabio.2010.04.01820441769
    Search in Google Scholar
  7. 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): 81-85.10.1016/j.jpeds.2003.10.02314722523
    Search in Google Scholar
  8. 8. Serajee FJ, Zhang H, Huq A. Prevalence of common mitochondrial point mutations in autism. Neuropediatrics. 2006; 37(Suppl 1): S127.10.1055/s-2006-945807
    Search in Google Scholar
  9. 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): 357-361.10.1177/08830738000150060110868777
    Search in Google Scholar
  10. 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): e3815.10.1371/journal.pone.0003815258423019043581
    Search in Google Scholar
  11. 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): 280-281.10.1016/j.jpeds.2005.08.06016887455
    Search in Google Scholar
  12. 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;12:50.10.1186/1471-2350-12-50308028221470425
    Search in Google Scholar
  13. 13. www.mitomap.org.
    Search in Google Scholar
  14. 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): 749-751.10.1093/nar/gkj010134737316381973
    Search in Google Scholar
  15. 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): 2389-2396.10.1001/jama.2010.1706391505821119085
    Search in Google Scholar
  16. 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): 185-189.10.1017/S0012162205000332
    Search in Google Scholar
  17. 17. Rossignol DA, Frye RE. Mitochondrial dysfunction in autism spectrum disorders: a systematic review and meta-analysis. Mol Psychiatry. 2012; 17(3): 290-314.10.1038/mp.2010.136328576821263444
    Search in Google Scholar
  18. 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): 1351-1360.10.1172/JCI1943522846614597761
    Search in Google Scholar
  19. 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): 428-433.10.1542/peds.103.2.4289925836
    Search in Google Scholar
  20. 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): 1232-1235.10.1177/088307380936116520179003
    Search in Google Scholar
  21. 21. Tsao CY, Mendell JR. Autistic disorder in 2 children with mitochondrial disorders. J Child Neurol. 2007; 22(9): 1121-1123.10.1177/088307380730626617890412
    Search in Google Scholar
  22. 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): 726-733.10.1111/j.1469-8749.2007.00726.x17880640
    Search in Google Scholar
  23. 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): 435-439.10.1177/08830738020170060712174964
    Search in Google Scholar
  24. 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): 167-176.10.3844/ajbbsp.2008.167.176
    Search in Google Scholar
  25. 25. Herlenius E, Lagercrantz H. Development of neurotransmitter systems during critical periods. Exp Neurol 2004; 190(Suppl 1): S8-S21.10.1016/j.expneurol.2004.03.02715498537
    Search in Google Scholar
  26. 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): 253-264.10.1016/j.plefa.2009.06.00319608392
    Search in Google Scholar
  27. 27. Ben-Shachar D. Mitochondrial dysfunction in schi-zophrenia: a possible linkage to dopamine. J Neurochem. 2002; 83(6): 1241-1251.10.1046/j.1471-4159.2002.01263.x12472879
    Search in Google Scholar
DOI: https://doi.org/10.2478/bjmg-2013-0006 | Journal eISSN: 2199-5761
Journal RSS Feed
Language: English
Page range: 47 - 53
Published on: Apr 2, 2013
Published by: Macedonian Academy of Sciences and Arts
In partnership with: Paradigm Publishing Services
Publication frequency: 2 issues per year
Keywords:
Autism spectrum disorders (ASDs),
Genetic testing,
Mitochondrial DNA (mtDNA) mutations
Related subjects:
Medicine,
Basic medical science,
Basic medical science, other

© 2013 D. Avdjieva-Tzavella, S. Mihailova, C. Lukanov, E. Naumova, E. Simeonov, R. Tincheva, D. Toncheva, published by Macedonian Academy of Sciences and Arts
This work is licensed under the Creative Commons License.

Previous articleVolume 15 (2012): Issue 2 (December 2012)Next article