Allantoinase in the marine polychaeteEudistylia vancouveri

Summary Allantoinase, an enzyme in the purine-urea cycle, was found inEudistylia vancouveri (Polychaeta). The enzyme had a pH optimum at 7.6 TheK _m was 0.012M allantoin, and the Arrhenius energy of activation was 12.6 to 14.6 kcal/mol.Supported by the U. S. National Science Foundation (Institutional Grant) and by the U. S. Environmental Protection Agency Grant No. T-900204 (WP-175). Publication No. 10 of the Laboratory of Biochemical Ecology; College of Fisheries Contribution No. 458. We thank Dr.Robert L. Fernald for generously making available to us the facilities of the Friday Harbor Laboratories, Friday Harbor, Washington.     

Novel mutations in families with unusual and variable disorders of the skeletal muscle sodium channel.

Mutations in the skeletal muscle sodium channel gene (SCN4A) have been described in paramyotonia congenita (PMC) and hyperkalaemic periodic paralysis (HPP). We have found two mutations in SCN4A which affect regions of the sodium channel not previously associated with a disease phenotype. Furthermore, affected family members display an unusual mixture of clinical features reminiscent of PMC, HPP and of a third disorder, myotonia congenita (MC). The highly variable individual expression of these symptoms, including in some cases apparent non-penetrance, implies the existence of modifying factors. Mutations in SCN4A can produce a broad range of phenotypes in muscle diseases characterized by episodic abnormalities of membrane excitability.