2020/05/21 by John E. Cronan · 65 citations
Biochemistry, Genetics and Molecular Biology · #Biochemical Acid Research Studies #Metabolism and Genetic Disorders #Biochemical and Molecular Research #Lipoic acid #Biology #Enzyme #Gene #Biochemistry #Missense mutation #Nonsense mutation #Phenotype #Genetics #Mitochondrion
paper · pdf · doi:10.3389/fgene.2020.00510
published in Frontiers in Genetics 11, 510 (Frontiers Media)
openalex publication_date 2020/05/21 · openalex created_date 2025/10/10 · openalex updated_date 2026/08/01
genes. However, the functions of the proteins encoded by these genes in lipoic acid metabolism remained uncertain due to a lack of biochemical analysis at the enzyme level. An exception was the LIPT1 protein for which a perplexing property had been reported, a ligase lacking the ability to activate its substrate. This led to several models, some contradictory, to accommodate the role of LIPT1 protein activity in explaining the phenotypes of the afflicted neonatal patients. Recent evidence indicates that this LIPT1 protein activity is a misleading evolutionary artifact and that the physiological role of LIPT1 is in transfer of lipoic acid moieties from one protein to another. This and other new biochemical data now define a straightforward pathway that fully explains each of the human disorders specific to the assembly of lipoic acid on its cognate enzyme proteins.