帕金森病
单胺类神经递质
肌张力障碍
高苯丙氨酸血症
神经退行性变
神经科学
疾病
医学
生物信息学
病因学
精神科
心理学
生物
遗传学
血清素
内科学
苯丙氨酸
氨基酸
受体
作者
Isaac Deng,Jordan Follett,Mengfei Bu,Matthew J. Farrer
摘要
Recent studies show that pathogenic variants in DNAJC12, a co-chaperone for monoamine synthesis, may cause mild hyperphenylalaninemia with infantile dystonia, young-onset parkinsonism, developmental delay and cognitive deficits. DNAJC12 has been included in newborn screening, most revealingly in Spain, and those results highlight the importance of genetic diagnosis and early intervention in combating human disease. However, practitioners may be unaware of these advances and it is probable that many patients, especially adults, have yet to receive molecular testing for DNAJC12. Hence, this review summarizes genotype-phenotype relationships and treatment paradigms for patients with pathogenic variants in DNAJC12. It provides an overview of the structure of DNAJC12 protein, known genetic variants, domains, and binding partners, and elaborates on its role in monoamine synthesis, disease etiology, and pathogenesis. © 2023 International Parkinson and Movement Disorder Society.
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