A Novel SPAST Mutation Results in Spastin Accumulation and Defects in Microtubule Dynamics.

ABSTRACT:

Background

Haploinsufficiency is widely accepted as the pathogenic mechanism of spastic paraplegia type 4 (SPG4). However, there are some cases that cannot be explained by reduced function of the spastin protein encoded by SPAST.

Objectives

To identify the causative gene of autosomal dominant hereditary spastic paraplegia in three large Chinese families and explore the pathological mechanism of a spastin variant.

Methods

Three large Chinese hereditary spastic paraplegia families with a total of 247 individuals (67 patients) were investigated, of whom 59 members were recruited to the study. Genetic testing was performed to identify the causative gene. Western blotting and immunofluorescence were used to analyze the effects of the mutant proteins in vitro.

Results

SUBMITTER: Chen R 

PROVIDER: S-EPMC9300132 | biostudies-literature | 2022 Mar

REPOSITORIES: biostudies-literature