Spastin accumulation and motor neuron defects caused by a novel SPAST splice site mutation.

ABSTRACT:

Background

Hereditary spastic paraplegia (HSP) is a rare genetically heterogeneous neurodegenerative disorder. The most common type of HSP is caused by pathogenic variants in the SPAST gene. Various hypotheses regarding the pathogenic mechanisms of HSP-SPAST have been proposed. However, a single hypothesis may not be sufficient to explain HSP-SPAST.

Objective

To determine the causative gene of autosomal dominant HSP-SPAST in a pure pedigree and to study its underlying pathogenic mechanism.

Methods

A four-generation Chinese family was investigated. Genetic testing was performed for the causative gene, and a splice site variant was identified. In vivo and in vitro experiments were conducted separately. Western blotting and immunofluorescence were performed after transie

SUBMITTER: Luo M 

PROVIDER: S-EPMC11429824 | biostudies-literature | 2024 Sep

REPOSITORIES: biostudies-literature