SORT1 Mutation Resulting in Sortilin Deficiency and p75NTR Upregulation in a Family With Essential Tremor

In this study, whole exome sequencing and subsequent approaches were performed in a family with an autosomal dominant form of early-onset ET. Functional analyses including mutagenesis, cell culture, gene expression, enzyme-linked immunosorbent, and apoptosis assays were also performed. A disease-segregating mutation (p.Gly171Ala), absent in normal population, was identified in the SORT1 gene. The p.Gly171Ala mutation was shown not only to impair the expression of its encoding protein sortilin but also the mRNA levels of its binding partner p75 neurotrophin receptor that is known to be implicated in brain injury, neuronal apoptosis, and neurotransmission.

Source: ASN Neuro - August 21, 2015 Category: Neuroscience Authors: Sanchez, E., Bergareche, A., Krebs, C. E., Gorostidi, A., Makarov, V., Ruiz-Martinez, J., Chorny, A., Lopez de Munain, A., Marti-Masso, J. F., Paisan-Ruiz, C. Tags: Original Article Source Type: research