DNAJC12 in monoamine metabolism, neurodevelopment and neurodegeneration

Abstract

AbstractRecent studies show that mutations inDNAJC12, a co-chaperone for monoamine synthesis may cause mild hyperphenylalaninemia with infantile dystonia, young-onset parkinsonism, developmental delay and cognitive deficits. To this end,DNAJC12gene has been included in newborn screening, most revealingly in Spain, and those results are a testament to the importance of early diagnosis and treatment in combating human diseases. However, practitioners may be unaware of these advances and it is probable that many patients, especially adults, have yet to receive molecular testing forDNAJC12. Therefore, this review summarizes genotype-phenotype relationships and treatment paradigms for patients withDNAJC12mutations. It provides an overview of the structure of DNAJC12 protein, known mutations, domains and binding partners, and elaborates on its role in monoamine synthesis, disease etiology and pathogenesis.