Hereditary spastic paraplegia SPG13 is associated with a mutation in the gene encoding the mitochondrial chaperonin Hsp60.
Am J Hum Genet
; 70(5): 1328-32, 2002 May.
Article
in En
| MEDLINE
| ID: mdl-11898127
ABSTRACT
SPG13, an autosomal dominant form of pure hereditary spastic paraplegia, was recently mapped to chromosome 2q24-34 in a French family. Here we present genetic data indicating that SPG13 is associated with a mutation, in the gene encoding the human mitochondrial chaperonin Hsp60, that results in the V72I substitution. A complementation assay showed that wild-type HSP60 (also known as "HSPD1"), but not HSP60 (V72I), together with the co-chaperonin HSP10 (also known as "HSPE1"), can support growth of Escherichia coli cells in which the homologous chromosomal groESgroEL chaperonin genes have been deleted. Taken together, our data strongly indicate that the V72I variation is the first disease-causing mutation that has been identified in HSP60.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Spastic Paraplegia, Hereditary
/
Chromosome Mapping
/
Chaperonin 60
/
Mitochondrial Proteins
/
Mutation
Type of study:
Risk_factors_studies
Limits:
Female
/
Humans
/
Male
Language:
En
Journal:
Am J Hum Genet
Year:
2002
Document type:
Article
Affiliation country: