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1. Mutation Resulting in Sortilin Deficiency and p75 Upregulation in a Family With Essential Tremor

Author

Elena Sánchez, Alberto Bergareche, Catharine E. Krebs, Ana Gorostidi, Vladimir Makarov, Javier Ruiz-Martinez, Alejo Chorny, Adolfo Lopez de Munain, Jose Felix Marti-Masso, and Coro Paisán-Ruiz

Subjects
Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571
Abstract

*These authors contributed equally to this work. Essential tremor (ET) is the most prevalent movement disorder affecting millions of people in the United States. Although a positive family history is one of the most important risk factors for ET, the genetic causes of ET remain unknown. 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.

Published
2015
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2. SORT1 Mutation Resulting in Sortilin Deficiency and p75(NTR) Upregulation in a Family With Essential Tremor

Author

Vladimir Makarov, Adolfo López de Munain, Catharine E. Krebs, Alberto Bergareche, Elena Sánchez, Jose Felix Marti-Masso, Ana Gorostidi, J. Ruiz-Martinez, Alejo Chorny, and Coro Paisán-Ruiz

Subjects
Adult, Male, Essential Tremor, DNA Mutational Analysis, Mutagenesis (molecular biology technique), Apoptosis, Enzyme-Linked Immunosorbent Assay, Nerve Tissue Proteins, Receptors, Nerve Growth Factor, Biology, Neuropsychological Tests, medicine.disease_cause, Transfection, SORT1 mutation, Cohort Studies, Downregulation and upregulation, Surveys and Questionnaires, Gene expression, medicine, Low-affinity nerve growth factor receptor, Humans, p75NTR upregulation, RNA, Messenger, Exome sequencing, Aged, Genetics, Aged, 80 and over, Family Health, Neurologic Examination, Mutation, Essential tremor, sortilin downregulation, General Neuroscience, HEK 293 cells, Middle Aged, medicine.disease, Flow Cytometry, tremor, Up-Regulation, Adaptor Proteins, Vesicular Transport, HEK293 Cells, Female, Original Article, Neurology (clinical)
Abstract

*These authors contributed equally to this work. Essential tremor (ET) is the most prevalent movement disorder affecting millions of people in the United States. Although a positive family history is one of the most important risk factors for ET, the genetic causes of ET remain unknown. 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.

Published
2015

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