Jer-Li Lin

Publications (2)7.24 Total impact

• Article: Clinical and cellular characterization of two novel MPZ mutations, p.I135M and p.Q187PfsX63.

  Kon-Ping Lin, Bing-Wen Soong, Ming-Hong Chang, Wei-Ta Chen, Jer-Li Lin, Wei-Ju Lee, Yi-Chung Lee
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  ABSTRACT: We report the clinical and cellular phenotypes of two novel MPZ mutations associated with CMT1B. The two families were evaluated clinically, electrophysiologically, and genetically. The wild-type and mutant P(0) fused with fluorescent proteins were expressed in vitro to monitor their intracellular trafficking. Adhesion assay was also performed to evaluate the adhesiveness of cells. The two novel heterozygous MPZ mutations, p.I135M and p.Q187PfsX63, are associated with a childhood-onset demyelinating polyneuropathy. The median motor nerve conduction velocities of the two index patients carrying each mutation were 12.9 and 13.6m/s, respectively. Fluorescence analysis demonstrated that the P(0) I135M protein was located on the cell membrane, but the P(0) Q187PfsX63 protein was retained ectopically in the endoplasmic reticulum and Golgi apparatus. Adhesion assay demonstrated a defective adhesiveness of cells expressing either mutant P(0) protein, and P(0) Q187PfsX63 had a more prominent defect of self-adhesive ability than P(0) I135M. This study expanded the spectrum of the MPZ mutations and revealed two disparate mechanisms of MPZ mutations associated with a typical CMT1B phenotype. Other modifying genetic, epigenetic, or environmental factors on CMT1B may exist to explain the discrepancy between the cellular phenotypes.
  Clinical neurology and neurosurgery 02/2012; 114(2):124-9. · 1.30 Impact Factor
• Article: FUS, TARDBP, and SOD1 mutations in a Taiwanese cohort with familial ALS.

  Ching-Paio Tsai, Bing-Wen Soong, Kon-Ping Lin, Pang-Hsien Tu, Jer-Li Lin, Yi-Chung Lee
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  ABSTRACT: The cause of familial amyotrophic lateral sclerosis (FALS) has been attributed to mutations in several genes. The authors analyzed these genes, including SOD1, FUS, VAPB, ANG, TDP-43, FIG4, and CHMP2B, in a cohort of 15 index patients of Han Chinese descent with adult-onset FALS. Seven different mutations in eight patients, including three in SOD1 (G85R, T137R, and G138E), two in exon 15 of FUS (H517D and R521H), and two in exon 6 of TARDBP (M337V and N378D) were identified. Among them, T137R SOD1, G138E SOD1, H517D FUS, and N378D TARDBP were novel. No mutation was found in VAPB, ANG, FIG4, or CHMP2B genes. Mutations in SOD1, FUS, and TARDBP account for 20%, 13.3%, and 20% of FALS, respectively. This study defined the distribution and frequency of mutations of FALS in a Taiwanese Han Chinese population, which not only broadens the spectrum of the mutations causing FALS, but also further highlights the importance of FUS and TARDBP in the pathogenesis of amyotrophic lateral sclerosis (ALS).
  Neurobiology of aging 03/2011; 32(3):553.e13-21. · 5.94 Impact Factor