Variant R244H in Na+/Mg2+ exchanger SLC41A1 in Taiwanese Parkinson's disease is associated with loss of Mg2+ efflux function

Chih Hsin Lin, Yih Ru Wu, Wan Ling Chen, Hao Chun Wang, Chi Mei Lee, Guey Jen Lee-Chen*, Chiung Mei Chen


研究成果: 雜誌貢獻期刊論文同行評審

11 引文 斯高帕斯(Scopus)


Background: Sequence variants in SLC41A1 have been reported to be associated with Parkinson's disease (PD). This study investigates whether the genetic variants in SLC41A1 contribute to Taiwanese PD. Methods: We sequenced SLC41A1 cDNA fragments from 80 patients with early onset PD. A cohort of PD and ethnically matched controls were examined for the sequence variant. The effect of variation on Mg2+ homeostasis was further examined using stably induced 293 cells expressing recombinant wild type and variant SLC41A1. Results: A novel heterozygous R244H in the SLC41A1 gene was identified in one early onset PD patient, which not present either in 479 PD patients or 525 normal controls with age onset >50. Both wild type and R244H SLC41A1-V5-His proteins were co-localized to areas of the plasma membrane that were stained using wheat germ agglutinin (WGA). Fluorescent probe mag-fluo-4 staining indicated that R244H SLC41A1 is dysfunctional in Mg2+ efflux. Conclusions: This study has shown loss of Mg2+ efflux function consequent to SLC41A1 R244H variant and SLC41A1 coding variants seem to be rare in Taiwanese PD.

頁(從 - 到)600-603
期刊Parkinsonism and Related Disorders
出版狀態已發佈 - 2014 六月

ASJC Scopus subject areas

  • 神經內科
  • 老年病學和老年學
  • 神經病學(臨床)


深入研究「Variant R244H in Na<sup>+</sup>/Mg<sup>2+</sup> exchanger SLC41A1 in Taiwanese Parkinson's disease is associated with loss of Mg<sup>2+</sup> efflux function」主題。共同形成了獨特的指紋。