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Mechanism of action and therapeutic route for a muscular dystrophy caused by a genetic defect in lipid metabolism

23 Mar 2022

Abstract excerpt

Abstract CHKB encodes one of two mammalian choline kinase enzymes that catalyze the first step in the synthesis of the membrane phospholipid phosphatidylcholine. In humans and mice, inactivation of the CHKB gene ( Chkb in mice) causes a recessive rostral-to-caudal muscular dystrophy. Using Chkb knockout mice, we reveal that at no stage of the disease is phosphatidylcholine level significantly altered. We observe...

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PMID: 35322809
DOI: 10.1038/s41467-022-29270-z

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