Mutations Phe785Leu and Thr618Met in Na+,K+-ATPase, associated with familial rapid-onset dystonia parkinsonism, interfere with Na+ interaction by distinct mechanisms.

Abstract excerpt

The Na(+),K(+)-ATPase plays key roles in brain function. Recently, missense mutations in the Na(+),K(+)-ATPase were found associated with familial rapid-onset dystonia parkinsonism (FRDP). Here, we have characterized the functional consequences of FRDP mutations Phe785Leu and Thr618Met. Both mutations lead to functionally altered, but active, Na(+),K(+)-pumps, that display reduced apparent affinity for...

Topics

• Animals
• COS Cells
• Chlorocebus aethiops
• Dystonia
• Genetic Predisposition to Disease
• Humans
• Models, Molecular
• Mutation
• Parkinsonian Disorders
• Phenylalanine
• Protein Conformation
• Rats
• Sodium
• Sodium-Potassium-Exchanging ATPase
• Threonine