Article
MT-TN mutations lead to progressive mitochondrial encephalopathy and promotes mitophagy.
Biochimica et biophysica acta. Molecular basis of disease - 1 Apr 2024
Duan Haolin, Pan Cunhui, Wu Tenghui, Peng Jing, Yang Li
Abstract excerpt
Mitochondrial encephalopathy is a neurological disorder caused by impaired mitochondrial function and energy production. One of the genetic causes of this condition is the mutation of MT-TN, a gene that encodes the mitochondrial transfer RNA (tRNA) for asparagine. MT-TN mutations affect the stability and structure of the tRNA, resulting in reduced protein synthesis and complex enzymatic deficiency of the...
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