EMBO Mol Med 2021 May 27:e13943. Epub 2021 May 27.
Laboratory Genetic Metabolic Diseases, Amsterdam Gastroenterology, Endocrinology, and Metabolism (AGEM), Amsterdam Cardiovascular Sciences (ACS), Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.
Depletion of nicotinamide adenine dinucleotide (NAD ), a central redox cofactor and the substrate of key metabolic enzymes, is the causative factor of a number of inherited and acquired diseases in humans. Primary deficiencies of NAD homeostasis are the result of impaired biosynthesis, while secondary deficiencies can arise due to other factors affecting NAD homeostasis, such as increased NAD consumption or dietary deficiency of its vitamin B3 precursors. NAD depletion can manifest in a wide variety of pathological phenotypes, ranging from rare inherited defects, characterized by congenital malformations, retinal degeneration, and/or encephalopathy, to more common multifactorial, often age-related, diseases. Read More