قبل الحادث بشهر 1998

الأربعاء، 13 أكتوبر، 2010

Rapid-onset dystonia-parkinsonism gene



Researchers have identified one mutated gene, called ATP1A3, common to all families affected by rapid-onset dystonia-parkinsonism (RDP). ATP1A3 makes a protein involved in pumping mineral ions into neurons, a process crucial to the nerve cells' ability to communicate with muscle cells. RDP is inherited in an autosomal dominant manner, meaning that only one parents needs to have a gene mutation for a child to inherit the disease

Scientists have found multiple different mutations in the ATP1A3 gene. Each of the mutations caused a different incorrect amino acid to be incorporated into the protein

Genetic testing for the ATP1A3 mutations may be available through select medical centers