title: [The causative gene of Parkinsonism and its medical treatment strategy].
abstract: Parkinsonism is a neurological syndrome characterized by tremor, hypokinesia, rigidity, and postural instability. The neurodegenerative condition of Parkinson's disease (PD) is the most common cause of parkinsonism. PD is classified as sporadic PD and familial PD. Whereas idiopathic PD is caused by a number of complex factors, familial PD is a result of mutations in PD-associated genes. Unraveling the mechanisms surrounding familial PD will offer pivotal clues in understanding etiology of not only familial PD but also sporadic PD. We have demonstrated neuroprotective effects with particular focus on DJ-1. On the other hand, idiopathic basal ganglia calcification, also known as Fahr disease (FD) is another condition characterized by parkinsonism. In 2012, solute carrier family 20A2 (SLC20A2) was identified as the causative gene for familial FD. Our analysis of patient samples revealed a novel mutation in SLC20A2. Type-III sodium-dependent phosphate transporter 2 (PiT-2), the protein encoded by SLC20A2, plays an important role in phosphate homeostasis. However, PiT-2's role in the pathology of FD remains largely unclear. We have established induced pluripotent stem (iPS) cells from FD patients and are investigating their usefulness in drug development. Here, we present some of our latest research findings.
authors.affiliation: Laboratory of Medical Therapeutics and Molecular Therapeutics, Gifu Pharmaceutical University.
authors.forename: Masatoshi
authors.initials: M
authors.lastname: Inden
mesh_terms: D056426:Genetic Loci; D006801:Humans; D057026:Induced Pluripotent Stem Cells / Q000378:metabolism; D010300:Parkinson Disease / Q000235:genetics* / Q000628:therapy; D050608:Sodium-Phosphate Cotransporter Proteins / Q000235:genetics; D050611:Sodium-Phosphate Cotransporter Proteins, Type III / Q000235:genetics
chemical_list: C493589:SLC20A2 protein, human; D050608:Sodium-Phosphate Cotransporter Proteins; D050611:Sodium-Phosphate Cotransporter Proteins, Type III