Human Gene 誌に論文が掲載されました

2024年08月26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 Human Gene 誌に掲載されました。
Md. Mahbub Hasan, Maisha Adiba, Molie Rahman, Hosneara Akter, Mohammed Uddin, Akio Ebihara, A.H.M. Nurun Nabi, Tahirah Yasmin,
Mutational analyses of mitochondrial ATP6 gene reveal a possible association with abnormal levels of lactic acid and ammonia in Bangladeshi children with autism spectrum disorder: A case-control study,
Human Gene 42 (2024) [DOI]

Highlights
• Two SNPs within the ATP6 gene showed an association with higher lactic acid levels.
• Three SNPs within the ATP6 gene showed an association with higher ammonia levels.
• 8668C > T is the most deleterious non-synonymous SNP from in silico studies.
• All synonymous SNPs of the ATP6 gene show altered RSCU values.
Keywords: Mitochondrial dysfunction; Genetic variants; Non-synonymous SNP; Synonymous SNP; Autism spectrum disorder