Autism and mitochondrial dysfunction (CORRECTION: The abstract of this article has been corrected)

Yıl 2022, Cilt: 3 Sayı: 2, 95 - 99, 25.08.2022

Rukiye Arslan

https://doi.org/10.29228/anatoljhr.61165

Öz

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by repetitive behaviors, limited interest field, inadequacy in language skills, and impaired social communication and interaction. Although it is not known exactly what causes ASD, the prevalence of which is increasing day by day, yet it is stated that ASD is caused by a series of environmental and genetic interactions. It has been determined that mitochondria, which are extremely vulnerable to environmental factors, exhibit an atypical development in children with ASD according to some studies conducted in recent years. It is said that mitochondria, which is a versatile organelle involved in many cellular functions, has a relationship with ASD. Therefore, in this review, the relationship between autism spectrum disorder and mitochondrial dysfunction is studied.

Anahtar Kelimeler

mitochondria, mitochondrial dysfunction, autism

Otizm ve mitokondriyal fonksiyon bozukluğu (DÜZELTME: Bu makalenin özet bölümü düzeltilmiştir)

Öz

Otizm spektrum bozukluğu (OSB); tekrarlayan davranışlar, sınırlı ilgi alanı, dil becerilerinde yetersizlik, sosyal iletişim ve etkileşimde bozulma ile karakterize nörogelişimsel bir bozukluktur. Yaygınlığı gün geçtikçe artan OSB’ye neyin neden olduğu tam olarak bilinmemekle birlikte OSB’nin bir dizi çevre ve gen etkileşiminden kaynaklandığı belirtilmektedir. Çevresel faktörlere karşı aşırı derecede savunmasız olan mitokondrinin son yıllarda yapılan bazı çalışmalara göre OSB’li çocuklarda atipik bir gelişim sergilediği tespit edilmiştir. Birçok hücresel işlevde yer alan ve çok yönlü bir organel olan mitokondrinin OSB ile arasında bir ilişki olduğu söylenmektedir. Bu nedenle bu derlemede, otizm spektrum bozukluğu ve mitokondriyal fonksiyon bozuklukları arasındaki ilişki ele alınmıştır.

Anahtar Kelimeler

mitokondri, mitokondriyal disfonksiyon, otizm

Kaynakça

• Akarsu, S., (2014). Şizofreni ve mitokondri disfonksiyonu. Psikiyatride Güncel Yaklaşımlar, 6(4), 340-354.
• American Psychiatric Association. (2005). Diagnostic and statistical manual of mental disorders. 4th ed. Washington, American Psychiatric Association, 66-77.
• American Psychiatric Association. (2013). Diagnostic and statistical manual of mental disorders. 5th ed. Washington, American Psychiatric Association, 50-59.
• Arslan, R., & Sağlam, M. (2021a). Investigating the effects of sensory development support program prepared for mothers on sensory and social development of children with autism, Pakistan Journal of Medical and Health Sciences, 15(9), 2624-2629. https://doi.org/10.53350/pjmhs211592624
• Arslan, R., & Sağlam, M. (2021b). Otizmli Çocuklar ve Duyusal Gelişimlerini Destekleyici Alternatif Bir Program.” Ankara: Eğiten Kitap.
• Aydın, D., & Özgen, Z. E. (2018). Çocuklarda otizm spektrum bozukluğu ve erken tanılamada hemşirenin rolü. Gümüşhane Üniversitesi Sağlık Bilimleri Dergisi, 7(3), 93-101.
• Atasoy, S. (2008). Yüksek fonksiyonlu otistik çocuklarda çeşitli bilişsel özellikler arasındaki ilişkilerin incelenmesi (Doktora tezi). Ege Üniversitesi, İzmir.
• Balderaz, L. (2020). Social skills ınterventions for adults with ASD: a review of the literature. Journal of Psychosocial Rehabilitation and Mental Health, 7, 45–54.
• Camarata, S. (2014). Early identification and early intervention in autism spectrum disorders: accurate and effective? International Journal of Speech-Language Pathology, 16(1), 1-10.
• Çuhadar, S. (2019). Otizm spektrum bozukluğunun tanımı, nedenleri, yaygınlığı ve sınıflandırması. Melekoğlu MA, Kartal MS (Ed). Zihin yetersizliği ve otizm spektrum bozukluğu (s.112-119). Ankara: Eğiten Kitap.
• Eyüpoğlu, M. (2019). Çocukluktan erişkinliğe otizm spektrum bozukluğu. Ankara: Eğiten Kitap.
• Fazlıoğlu, Y., & Günsen, M. O. (2011). Sensory motor development in autism. In: Mohammadi MR (ed). A comprehensive book on autism spectrum disorders, 1th ed. Croatia, InTech, 345-368.
• Frye, R. E. (2020). Mitochondrial dysfunction in autism spectrum disorder: unique abnormalities and targeted treatments. Seminars in Pediatric Neurology, 35, 1-10. https://doi.org/10.1016/j.spen.2020.100829
• Frye, R. E., DeLaTorre, R., Taylor, H., Slattery, J., Melnyk, S., Chowdhury, N., & James, S. J. (2013). Redox metabolism abnormalities in autistic children associated with mitochondrial disease. Translational Psychiatry, 3(13), 2158-2188.
• Fuentes, C. T. (2010). Sensation and action in autism spectrum disorder (Unpublished doctoral thesis). Johns Hopkins University.
• Gevezovaa, M., Sarafian, V., Andersonc, G., & Maes, M. (2020). Inflammation and mitochondrial dysfunction in autism spectrum disorder. CNS & Neurological Disorders-Drug Targets, 19(5), 320-333. https://doi.org/10.2174/1871527319666200628015039
• Giulivi, C., Zhang, Y., Omanska-Klusek, A., Ross-Inta, C., Wong, S., Hertz-Picciotto, I., Tassone, F., & Pessah, I. N. (2010). Mitochondrial dysfunction in autism. JAMA, 304(21), 2389-2396.
• Griffiths, K. K., & Levy, R. J. (2017). Review article evidence of mitochondrial dysfunction in autism: biochemical links, genetic-based associations, and non-energyrelated mechanisms. Oxidative Medicine and Cellular Longevity, 2017: 4314025. https://doi.org/10.1155/2017/4314025.
• Goh, S., Dong, Z., Zhang, Y., DiMauro, S., & Peterson, B. S. (2014). Mitochondrial dysfunction as a neurobiological subtype of autism spectrum disorder evidence from brain ımaging. JAMA Psychiatry, 71(6), 665-671. https://doi.org/10.1001/jamapsychiatry.2014.179
• Hebert, E. B., & Koulouglioti, C. (2010). Parental beliefs about cause and course of their child's autism and outcomes of their beliefs: a review of the literature. Comprehensive Pediatric Nursing, 33(3), 149-163.
• Hollis, F., Kanellopoulos, A. K., & Bagni, C. (2017). Mitochondrial dysfunction in autism spectrum disorder: clinical features and perspectives. Current Opinion in Neurobiology, 45, 178-187. https://doi.org/10.1016/j.conb.2017.05.018
• Itzchak, E. B., & Zachor, D. A. (2011). Who benefits from early intervention in autism spectrum disorder. Research in Autism Spectrum Disorders, 5(1), 345-350. https://doi.org/10.1016/j.rasd.2010.04.018
• Kalash, L. A. (2009). Perspectives of parents who have a child dıagnosed with an autism spectrum disorder. (Unpublished doctoral thesis). North Dakota University.
• Kasilingam, N., Waddington, H., & Meer L. V. D. (2021). Early intervention for children with autism spectrum disorder in new Zealand: what children get and what parents want. International Journal of Disability Development and Education, 68(4), 521-537. https://doi.org/10.1080/1034912X.2019.1696949
• Korkmaz, B. (2016). Otizm. Kulaksızoğlu A (Ed.). Farklı gelişen çocuklar, Ankara: Nobel Akademik Yayıncılık.
• Mahalaxmi, I., Subramaniam, M. D., Gopalakrishnan, A. V., & Vellingiri, B. (2021). Dysfunction in mitochondrial electron transport chain complex ı, pyruvate dehydrogenase activity, and mutations in nd1 and nd4 gene in autism spectrum disorder subjects from Tamil Nadu population, India. Molecular Neurobiology, 58, 5303-5311.
• Michalek, A. M. P., Phalen, L., Bobzien, J. L., Chen, C. H., Urbano, M., Hartmann, K., Okwara, L., Gorrepati, P., Deutsch, S., & Willams T. (2020). Using a STEM activity to improve social communication interactions in autism spectrum disorder. Preventing School Failure: Alternative Education for Children and Youth, 65(1), 38-47.
• Murat, M. (2018). Otizm spektrum bozukluğu tanılı hastalarda doğumsal metabolik hastalık açısından tarama sonuçlarının değerlendirilmesi. (Uzmanlık tezi). Sağlık Bilimleri Üniversitesi.
• Olsson, N. C., Rautio, D., Asztalos, J., Stoetzer, U., & Bölte, S. (2016). Social skills group training in high-functioning autism: a qualitative responder study. Autism, 20(8), 995-1010. https://doi.org/10.1177/1362361315621885
• Oliveira, G., Diogo, L., Grazina, M., Garcia, P., Psych, A. A, Marques, C., Miguel, T., Borges, L., Vicente, A. M., & Oliveira, C. R. (2005). Mitochondrial dysfunction in autism spectrum disorders: a population-based study. Developmental Medicine & Child Neurology, 47, 185-189.
• Palmieri, L., & Persico, A. M. (2010). Mitochondrial dysfunction in autism spectrum disorders: cause or effect? Biochimica et Biophysica Acta, 1797(6-7), 1130-1137. https://doi.org/10.1016/j.bbabio.2010.04.018
• Posey, D. J., Stigler, K. A., Erickson, C. A., & McDougle, C. J. (2008). Antipsychotics in the treatment of autism. Journal of Clinical Investigation, 118(1), 6-14.
• Rossignol, D. A., & Frye, R. E. (2012). Mitochondrial dysfunction in autism spectrum disorders: a systematic review and meta-analysis. Molecular Psychiatry, 17, 290-314.
• Samms-Vaughan, M. E. (2014). The status of early identification and early intervention in autism spectrum disorders in lower- and middle-income countries. International Journal of Speech-Language Pathology, 16(1), 30-35.
• Siddiqui, M. F., Elwell, C., & Johnson, M. H. (2016). Mitochondrial dysfunction in autism spectrum disorders. Autism Open Access, 6(5). https://doi.org/10.4172/2165-7890.1000190
• Wen, Y., & Yao, Y. (2021). Autism Spectrum Disorders: The Mitochondria Connection. Exon Publications, 79-93.
• Valenti, D., Bari, L., Filippis, B. D., Henrion-Caudec, A., & Vaccaa, R. A. (2014). Mitochondrial dysfunction as a central actor in intellectual disabilityrelated diseases: an overview of down syndrome, autism, fragile x and rett syndrome. Neuroscience & Biobehavioral Reviews, 42(2), 202-217. https://doi.org/10.1016/j.neubiorev.2014.01.012
• Yeniçeri, M. (2020). Mitokondriyal disfonksiyon ve otizm. Sakarya Tıp Dergisi, 10(1), 171-182.
• Zwaigenbaum, L., & Penner, M. (2018). Autism spectrum disorder: advances in diagnosis and evaluation. BMJ, 21, ö361