ArticleBrain and behavior2017
A novel p.T139M mutation in HSPB1 highlighting the phenotypic spectrum in a family.
Article in Brain and behavior, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 12 citations in OpenAlex.
- Review
- Heterogeneous Clinical Phenotypes of dHMN Caused by Mutation inBiomolecules · 2022Article
- Insights on Human Small Heat Shock Proteins and Their Alterations in Diseases.Frontiers in molecular biosciences · 2022Review
- Charcot-Marie-Tooth disease type 2F associated with biallelic HSPB1 mutations.Annals of clinical and translational neurology · 2021Article
- Impaired Mitochondrial Mobility in Charcot-Marie-Tooth Disease.Frontiers in cell and developmental biology · 2021Article
- Mutations in HspB1 and hereditary neuropathies.Cell stress & chaperones · 2020Review
- The neurodegenerative diseases ALS and SMA are linked at the molecular level via the ASC-1 complex.Nucleic acids research · 2018Article
- A novel p.T139M mutation in HSPB1 highlighting the phenotypic spectrum in a family.Brain and behavior · 2017Article
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Authors and funding
4 authors at 1 institution in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionMutations in the
methodsFive patients in a family with concerns of hereditary neuropathy were included. Detailed clinical examinations, including assessments of motor and sensory function, and electrophysiological data were obtained. Genetic analysis was requested through a commercial laboratory. In vitro studies were carried out to assess the pathogenicity of the novel mutation found in this family studies.
resultsAll patients carried a novel mutation, c.146 C>T (p.T139M), substitution in the α-crystallin domain of HSPB1 causing a clinical phenotype with hyperreflexia and intrafamilial variability, from muscle cramps as the only presenting symptom to a classic CMT phenotype. In vitro studies showed that cells expressing HSPB1-T139M displayed decreased cell viability with increased expression of apoptosis markers. Moreover, overexpression of the mutant, not the wild-type HSPB1, caused formation of congophilic aggregates.
conclusionsIn vitro findings strongly support the pathogenicity of this novel mutation. We propose that Congo red histochemical stain may serve as a simple screening tool for investigating if the aggregates in mutant cells have misfolded β-pleated sheet secondary structures.
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