CLINIC, DIFFERENTIAL DIAGNOSIS AND TREATMENT OF GALACTOSEMIA

The data of different firms of hereditary galactosemia was analyzed in this article. Clinical and biochemical characteristics and molecular and genetic features of diagnostics of this disease were described. The information about differential diagnosis and problems, related with hereditary galactozemia screening in Russia was given.Key words: children, galactosemia, treatment, screening

THE RESULTS OF CLINICAL APPROBATION OF NEW LOW_PROTEIN FOOD PRODUCED DOMESTICALLY

The results of multicenter clinical approbation of specialized foods of «Nutrigen» line are described in this article. An assessment of activity of low protein compound for baking bread and dried protein free beverage with milk flavor was carried out in genetic centers of Moscow, Saint-Petersburg and Krasnodar. The results of a trial show that new domestic foods have an opportunity to be widely used in dietotherapy of children with hereditary metabolic diseases.Key words: low_protein compound, dietotherapy, phenylke tonuria

Utrophin Binds Laterally along Actin Filaments and Can Couple Costameric Actin with Sarcolemma When Overexpressed in Dystrophin-deficient Muscle

Dystrophin is widely thought to mechanically link the cortical cytoskeleton with the muscle sarcolemma. Although the dystrophin homolog utrophin can functionally compensate for dystrophin in mice, recent studies question whether utrophin can bind laterally along actin filaments and anchor filaments to the sarcolemma. Herein, we have expressed full-length recombinant utrophin and show that the purified protein is fully soluble with a native molecular weight and molecular dimensions indicative of monomers. We demonstrate that like dystrophin, utrophin can form an extensive lateral association with actin filaments and protect actin filaments from depolymerization in vitro. However, utrophin binds laterally along actin filaments through contribution of acidic spectrin-like repeats rather than the cluster of basic repeats used by dystrophin. We also show that the defective linkage between costameric actin filaments and the sarcolemma in dystrophin-deficient mdx muscle is rescued by overexpression of utrophin. Our results demonstrate that utrophin and dystrophin are functionally interchangeable actin binding proteins, but that the molecular epitopes important for filament binding differ between the two proteins. More generally, our results raise the possibility that spectrin-like repeats may enable some members of the plakin family of cytolinkers to laterally bind and stabilize actin filaments