The discovery of genes related to Parkinson's disease(PD)provides an imporant basis for the progress of research into PD,helps to clarify is mechanism,and provides many new opportunities to find therapeutic targel...The discovery of genes related to Parkinson's disease(PD)provides an imporant basis for the progress of research into PD,helps to clarify is mechanism,and provides many new opportunities to find therapeutic targelts[1.2].The article by Deng and colleagues in 2016 found a new autosomal dominant PD(ADPD)gene,transmembrane protein 230(TMEM230).Four PD-linked mutations were identifed in PD patients:Y92C,RI4IL.184Wexr*5(replacing the stop codon with six amino-acids.WHPPHS,in the C-terminus in North American patients),and 184PGext*5(replacing the stop codon with proline and glycine,thus adding seven amino acids,PGHPPHS,to the C-lerminus in Chinese families with PD)[3].Subsequenly,studies have suggested thal TMEM230 variants are related to PD pathogenesis in viro[4-6].展开更多
基金supported by grants from the National Natural Science Foundation of China(81371392)the Jiangsu Natural Science Foundation(BK20131161)This project was also funded by the Priority Academic Program Development of Jiangsu Higher Education Institutions,China.
文摘The discovery of genes related to Parkinson's disease(PD)provides an imporant basis for the progress of research into PD,helps to clarify is mechanism,and provides many new opportunities to find therapeutic targelts[1.2].The article by Deng and colleagues in 2016 found a new autosomal dominant PD(ADPD)gene,transmembrane protein 230(TMEM230).Four PD-linked mutations were identifed in PD patients:Y92C,RI4IL.184Wexr*5(replacing the stop codon with six amino-acids.WHPPHS,in the C-terminus in North American patients),and 184PGext*5(replacing the stop codon with proline and glycine,thus adding seven amino acids,PGHPPHS,to the C-lerminus in Chinese families with PD)[3].Subsequenly,studies have suggested thal TMEM230 variants are related to PD pathogenesis in viro[4-6].