RGD Reference Report - Mutations in the gene-encoding SERCA1, the fast-twitch skeletal muscle sarcoplasmic reticulum Ca2+ ATPase, are associated with Brody disease. - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

Mutations in the gene-encoding SERCA1, the fast-twitch skeletal muscle sarcoplasmic reticulum Ca2+ ATPase, are associated with Brody disease.

Authors: Odermatt, A  Taschner, PE  Khanna, VK  Busch, HF  Karpati, G  Jablecki, CK  Breuning, MH  MacLennan, DH 
Citation: Odermatt A, etal., Nat Genet 1996 Oct;14(2):191-4.
RGD ID: 734618
Pubmed: (View Article at PubMed) PMID:8841193
DOI: Full-text: DOI:10.1038/ng1096-191

Brody disease is a rare inherited disorder of skeletal muscle function. Symptoms include exercise-induced impairment of skeletal muscle relaxation, stiffness and cramps. Ca2+ uptake and Ca2+ ATPase activities are reduced in the sarcoplasmic reticulum, leading to the prediction that Brody disease results from defects in the ATP2A1 gene on chromosome 16p12.1-12.2, encoding SERCA1, the fast-twitch skeletal muscle sarcoplasmic reticulum Ca2+ ATPase. A recent search, however, did not reveal any mutations in the ATP2A1 gene in three Brody patients. We have now associated Brody disease with the autosomal recessive inheritance of three ATP2A1 mutations in two families, suggesting that the disease is genetically heterogeneous. One mutation occurs at the splice donor site of intron 3, while the other two mutations lead to premature stop codons, truncating SERCA1, deleting essential functional domains and raising the intriguing question: how have these Brody patients partially compensated for the functional knockout of a gene product believed to be essential for fast-twitch skeletal muscle relaxation?

Annotation

Disease Annotations    
Brody myopathy  (IAGP,ISO)

Objects Annotated

Genes (Rattus norvegicus)
Atp2a1  (ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1)

Genes (Mus musculus)
Atp2a1  (ATPase, Ca++ transporting, cardiac muscle, fast twitch 1)

Genes (Homo sapiens)
ATP2A1  (ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1)


Additional Information