Gene Reports 誌に論文が掲載されました

2024年04月23日

バングラデシュ・ダッカ大学との国際共同研究の成果が Gene Reports 誌に掲載されました。
Maisha Adiba, Molie Rahman, Hosneara Akter, Md Mizanur Rahman, Mohammed Uddin, Akio Ebihara, A.H.M.Nurun Nabi
Mutational landscape of mitochondrial cytochrome b and its flanking tRNA genes associated with increased mitochondrial DNA copy number and disease risk in children with autism,
Gene Reports, 35 (2024) [DOI]
Highlights
• Significant high level of Lactic Acid and Ammonia was observed in children with autism compared to healthy controls.
• Clusters of variants within Cytb and its flanking tRNA genes were associated with disease severity, and associated features.
• Nonsynonymous SNPs were detected which alter the Cytb protein structure and function deleteriously.
• Cytb gene-specific mtDNA copy number revealed increased mtDNA copy numbers in children with autism.