Defective mitochondrial mRNA maturation is associated with spastic ataxia.
Am J Hum Genet
; 87(5): 655-60, 2010 Nov 12.
Article
en En
| MEDLINE
| ID: mdl-20970105
ABSTRACT
In human mitochondria, polyadenylation of mRNA, undertaken by the nuclear-encoded mitochondrial poly(A) RNA polymerase, is essential for maintaining mitochondrial gene expression. Our molecular investigation of an autosomal-recessive spastic ataxia with optic atrophy, present among the Old Order Amish, identified a mutation of MTPAP associated with the disease phenotype. When subjected to poly(A) tail-length assays, mitochondrial mRNAs from affected individuals were shown to have severely truncated poly(A) tails. Although defective mitochondrial DNA maintenance underlies a well-described group of clinical disorders, our findings reveal a defect of mitochondrial mRNA maturation associated with human disease and imply that this disease mechanism should be considered in other complex neurodegenerative disorders.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
ARN Polimerasas Dirigidas por ADN
/
ARN Mensajero
/
Ataxia Cerebelosa
/
Paraparesia Espástica
/
Proteínas Mitocondriales
/
Genes Mitocondriales
Tipo de estudio:
Prognostic_studies
/
Risk_factors_studies
Límite:
Adolescent
/
Adult
/
Child
/
Child, preschool
/
Female
/
Humans
/
Male
Idioma:
En
Revista:
Am J Hum Genet
Año:
2010
Tipo del documento:
Article
País de afiliación:
Reino Unido