Objective: To confirm the role of mutations in transmembrane protein 230 (TMEM230) in a large number of PD patients and controls in a Taiwanese population.

Background: Mutations in transmembrane protein 230 (TMEM230) have recently been reported to be associated with Parkinson’s disease (PD) in a North American population. A highly prevalent mutation, c.550_552delTAGinsCCCGGG (p.*184ProGlyext*5) was found in 3.1% of Chinese familial PD patients. However, subsequent studies failed to replicate these findings in different populations.

Methods: Among 1,672 participants, we sequenced all coding exons and exon–intron boundary junctions of the TMEM230 gene in 180 probands with familial PD. We also genotyped the potential pathogenic variants identified and the previously reported mutations (p.Arg141Leu, p.Tyr92Cys, p.*184Trpext*5, and p.*184ProGlyext*5) in an additional cohort of 500 patients with sporadic PD, and 992 age and gender-matched neurologically normal control subjects.

Results: We did not find any of the previously reported mutations, but we observed one novel missense exonic variant, c.G68A (p.Arg23Gln), in one patient with familial PD, and two patients with sporadic PD in a heterozygous state. However, subsequent analysis of this variant in 992 controls did not find any significant associations between p.Arg23Gln and the risk of PD (0.44% vs. 0.30%, p = 0.22).

Conclusions: Our findings suggest that genetic variants of TMEM230 do not play a major role in PD in our Taiwanese population. Further experimental studies are warranted to confirm the pathogenicity of this gene in PD disease process.

References: Deng H-X, Shi Y, Yang Y, Ahmeti KB, Miller N, Huang C, et al. Identification of TMEM230 mutations in familial Parkinson’s disease. Nature Genetics. 2016;48:733.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/lack-of-tmem230-mutations-in-patients-with-familial-and-sporadic-parkinsons-disease-in-a-taiwanese-population/