Abstract
TMEM230 has been associated with autosomal dominant Parkinson’s disease (PD). Subsequent studies have remained negative, and none of previous described mutation has been reported anymore. We investigated the implication of this gene in the PD in a population of 703 PD patients and 695 unrelated healthy controls from southern Spain. Thirteen variants were found, twelve of them observed only in controls or in patients and controls, and one (c.190A>G) observed only in one patient. Subsequent analysis of this variant indicates that probably it is not pathogenic. In addition, we found a variation in the 3’-UTR (rs183551373) and related with the miRNA hsa-miR-4299 but it was observed only in healthy controls. Our results suggest that variants in TMEM230 gene are not associated with the development of PD.
Highlights
Parkinson’s disease (PD) is a complex pathology in which both environmental and genetic factors are involved
We included a total of 703 PD patients from the Movement Disorders Unit of the Hospital Universitario Virgen del Rocıo (Seville, Spain), and 695 healthy controls (HC)
One novel variant (c.190A>G) was present in one patient only. This variant results in the loss of the start codon in the most common isoform of TMEM230. Another variant found in the present study, c.191T>C, carrying the same effect was present in two healthy controls and in one PD patient
Summary
Parkinson’s disease (PD) is a complex pathology in which both environmental and genetic factors are involved. More than 18 genes, like PARK2, LRRK2 or SNCA, among others, are well documented as causative genes or risk factors for PD [1]. The study of other described genes is still needed for understanding their implication in the pathophysiology of PD. A missense mutation (p.Arg141Leu) in TMEM230 gene has been described to be a cause of autosomal dominant PD in a large family from North American [2]. Two other mutations (p.Tyr92Cys and p.Ã184Trpext5Ã) were identified in two young onset unrelated PD patients in that study. In a Chinese population, a new mutation in TMEM230 (p.Ã184ProGlyext5Ã) was identified as being related with PD in 7 familial cases. Several additional studies in different populations have failed to find neither causative mutation nor risk factors in TMEM230 associated with PD [3–16] (S1 Table)
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