CHMP3 mutation associated with complex hereditary spastic paraplegia
A new study published in the Journal of Medical Genetics identified a homozygous missense variant in CHMP3 (a gene which encodes CHMP3 protein), within five individals from a consanguineous family of Arab-Muslim origin who express (consistently with autosomal recessive inheritance) hereditary ataxia and spastic paraplegia, amyotrophic lateral sclerosis and frontal dementia, characterised by intracellular accumulation of non-degraded proteins. Complementary researches (mRNA and protein expression used real-time PCR and immunoblots, fibroblasts analysis using electron microscopy, immunofluorescence, western blot analysis and ectopic plasmid expression) shows that reduced level of CHMP3 is associated with complex spastic paraplegia phenotype, through aberrant autophagy mechanisms.
- To read more about “Complex hereditary spastic paraplegia”
- J Med Genet . 2023 Mar;60(3):233-240