INVESTIGATION OF THE MITOCHONDRIAL ATPASE 6/8 AND TRNALYS GENES MUTATIONS IN AUTISM

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PIRYAEI FAHIMEH; HOUSHMAND MASSOUD; ARYANI OMID; DADGAR SEPIDEH; SOHEILI ZAHRA SOHEILA

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Journal: Cell Journal (Yakhteh) Year:2012 | Volume:14 | Issue:2 (54) Page(s): 98-101

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Title

INVESTIGATION OF THE MITOCHONDRIAL ATPASE 6/8 AND TRNALYS GENES MUTATIONS IN AUTISM

Author(s)

Keywords

AUTISM

MITOCHONDRIA

MUTATION

ATP ASE6/8

TRNALYS

Abstract

Objective: AUTISM results from developmental factors that affect many or all functional brain systems. Brain is one of tissues which are crucially in need of adenosine triphos phate (ATP). AUTISM is noticeably affected by MITOCHONDRIAl dysfunction which impairs energy metabolism. Considering MUTATIONs within ATPase 6, ATPase 8 and tRNA Lys genes, associated with different neural diseases, and the main role of ATPase 6/8 in energy gen eration, we decided to investigate MUTATIONs on these mtDNA-encoded genes to reveal their roles in AUTISM pathogenesis.Materials and Methods: In this experimental study, MUTATION analysis for the mentioned genes were performed in a cohort of 24 unrelated patients with idiopathic AUTISM by employing amplicon sequencing of mtDNA fragments.Results: In this study, 12 patients (50%) showed point MUTATIONs that representa signifi cant correlation between AUTISM and mtDNA variations. Most of the identified substitutions (55.55%) were observed on MT-ATP6, altering some conserved amino acids to other ones which could potentially affect ATPase 6 function. MUTATIONs causing amino acid replacement denote involvement of mtDNA genes, especially ATPase 6 in AUTISM pathogenesis.Conclusion: MtDNA MUTATIONs in relation with AUTISM could be remarkable to realize an understandable mechanism of pathogenesis in order to achieve therapeutic solutions.

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APA: Copy

PIRYAEI, FAHIMEH, HOUSHMAND, MASSOUD, ARYANI, OMID, DADGAR, SEPIDEH, & SOHEILI, ZAHRA SOHEILA. (2012). INVESTIGATION OF THE MITOCHONDRIAL ATPASE 6/8 AND TRNA^LYSGENES MUTATIONS IN AUTISM. CELL JOURNAL (YAKHTEH), 14(2 (54)), 98-101. SID. https://sid.ir/paper/590674/en

Vancouver: Copy

PIRYAEI FAHIMEH, HOUSHMAND MASSOUD, ARYANI OMID, DADGAR SEPIDEH, SOHEILI ZAHRA SOHEILA. INVESTIGATION OF THE MITOCHONDRIAL ATPASE 6/8 AND TRNA^LYSGENES MUTATIONS IN AUTISM. CELL JOURNAL (YAKHTEH)[Internet]. 2012;14(2 (54)):98-101. Available from: https://sid.ir/paper/590674/en

IEEE: Copy

FAHIMEH PIRYAEI, MASSOUD HOUSHMAND, OMID ARYANI, SEPIDEH DADGAR, and ZAHRA SOHEILA SOHEILI, “INVESTIGATION OF THE MITOCHONDRIAL ATPASE 6/8 AND TRNA^LYSGENES MUTATIONS IN AUTISM,” CELL JOURNAL (YAKHTEH), vol. 14, no. 2 (54), pp. 98–101, 2012, [Online]. Available: https://sid.ir/paper/590674/en

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