期刊
JOURNAL OF INHERITED METABOLIC DISEASE
卷 37, 期 5, 页码 709-714出版社
WILEY
DOI: 10.1007/s10545-014-9684-9
关键词
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资金
- Netherlands Organization of Scientific Research (NWO: VIDI grant) [016.086.336]
- Netherlands Organization for Scientific Research (NWO: VENI grant) [916.10.065]
- Academic Medical Center, Amsterdam, The Netherlands
- Instituto G. Gaslini, Telethon Network of Genetic Biobanks [GTB120001]
Inherited disorders of acyl-CoA metabolism, such as defects in amino acid metabolism and fatty acid oxidation can present with severe clinical symptoms either neonatally or later in life, but the pathophysiological mechanisms are often incompletely understood. We now report the discovery of a novel biochemical mechanism that could contribute to the pathophysiology of these disorders. We identified increased protein lysine butyrylation in short-chain acyl-CoA dehydrogenase (SCAD) deficient mice as a result of the accumulation of butyryl-CoA. Similarly, in SCAD deficient fibroblasts, lysine butyrylation was increased. Furthermore, malonyl-CoA decarboxylase (MCD) deficient patient cells had increased levels of malonylated lysines and propionyl-CoA carboxylase (PCC) deficient patient cells had increased propionylation of lysines. Since lysine acylation can greatly impact protein function, aberrant lysine acylation in inherited disorders associated with acyl-CoA accumulation may well play a role in their disease pathophysiology.
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