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9.B.232. The Parkinson's disease TMEM230 (TMEM230) Family  

Parkinson's disease is the second most common neurodegenerative disorder which is generally sporadic with unknown etiology. However, genetic studies of rare familial forms have led to the identification of mutations in several genes that are linked to Parkinson's disease or parkinsonian disorders. Deng et al. 2016 reported a locus for an autosomal dominant Parkinson's disease gene encoding TMEM230 that is a 2 TMS protein in secretory/recycling vesicles, including synaptic vesicles of neurons. Disease-linked TMEM230 mutants impair synaptic vesicle trafficking. Maintaining TMEM230 protein levels is critical for neuron survival and axon transport, suggesting that mutant-TMEM230-induced mitochondrial transport impairment could be the early event leading to neurite injury and neurodegeneration in PD development (Wang et al. 2021).



References associated with 9.B.232 family:

Deng, H.X., Y. Shi, Y. Yang, K.B. Ahmeti, N. Miller, C. Huang, L. Cheng, H. Zhai, S. Deng, K. Nuytemans, N.J. Corbett, M.J. Kim, H. Deng, B. Tang, Z. Yang, Y. Xu, P. Chan, B. Huang, X.P. Gao, Z. Song, Z. Liu, F. Fecto, N. Siddique, T. Foroud, J. Jankovic, B. Ghetti, D.A. Nicholson, D. Krainc, O. Melen, J.M. Vance, M.A. Pericak-Vance, Y.C. Ma, A.H. Rajput, and T. Siddique. (2016). Identification of TMEM230 mutations in familial Parkinson's disease. Nat. Genet. 48: 733-739. 27270108
Wang, X., G. Guo, J. Zhang, N. Aebez, Z. Liu, C.F. Liu, C.A. Ross, and W.W. Smith. (2021). Mutant-TMEM230-induced neurodegeneration and impaired axonal mitochondrial transport. Hum Mol Genet 30: 1535-1542. 34002226