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.     

Myosin IXB variant increases the risk of celiac disease and points toward a primary intestinal barrier defect

Celiac disease is probably the best-understood immune-related disorder. The disease presents in the small intestine and results from the interplay between multiple genes and gluten, the triggering environmental factor. Although HLA class II genes explain 40% of the heritable risk, non-HLA genes accounting for most of the familial clustering have not yet been identified. Here we report significant and replicable association (P = 2.1 x 10(-6)) to a common variant located in intron 28 of the gene myosin IXB (MYO9B), which encodes an unconventional myosin molecule that has a role in actin remodeling of epithelial enterocytes. Individuals homozygous with respect to the at-risk allele have a 2.3-times higher risk of celiac disease (P = 1.55 x 10(-5)). This result is suggestive of a primary impairment of the intestinal barrier in the etiology of celiac disease, which may explain why immunogenic gluten peptides are able to pass through the epithelial barrier.     

Common variation at 10p12.31 near MLLT10 influences meningioma risk

To identify susceptibility loci for meningioma, we conducted a genome-wide association study of 859 affected individuals (cases) and 704 controls with validation in two independent sample sets totaling 774 cases and 1,764 controls. We identified a new susceptibility locus for meningioma at 10p12.31 (MLLT10, rs11012732, odds ratio = 1.46, P(combined) = 1.88 × 10(-14)). This finding advances our understanding of the genetic basis of meningioma development.     

New species of Harasupia with a revised key to the species (Homoptera: Cicadellidae:Coelidiinae)

Five new species of Harasupia in the tribe Teruliini are described and illustrated. These include austini, baja, mexicana, retrorsa , and ungula , all from Mexico. A revised key to 12 known species is also given.     

Li-Fe-S三元系低锂区相图的电化学方法测定

利用固态原电池和电化学测定方法研究了Li-Fe-S三元系在350-550℃的相图.原电池由Li₄SiO₄+40mol%Li₃PO₄作固体电解质,Al,"LiAl"二相合金用作参考电极,以Li-Fe-S三元系为样品电极.在电化学库仑滴定下,测定电池的稳态开路电压随样品电极组成的变化.根据Gibbs相律,较精确地测定了Li-Fe-S三元系中Li<10atom%及Fe:S原子比高于47:53的部分相图.     

Polynucleotidases in animal tissues

Résumé Les organelles des Mammifères contiennent un grand nombre d'enzymes qui hydrolysent les acides nucléiques. Les enzymes qui agissent sur les acides désoxyribonucléiques étant accompagnées par quelques prohibiteurs et activateurs, on ne peut pas les évaluer avec certitude. Pour cette raison, la discussion ne porte que sur les enzymes ayant une certaine activité sur les acides ribonucléiques (alkaline RNase II, acide RNase II, RNase I, phosphodiestérase I, phosphodiestérase II). Les caractères servant à distinguer ces enzymes sont décrits ici. Elles renferment des substrats spéciaux et ont une inactivation sélective. Bien que les extraits des organelles renferment toutes les enzymes, les extraits des cellules cultivées in vitro n'en contiennent qu'une partie. Par hasard, une ou quelques activités peuvent faire défaut et la phosphodiestérase I est toujours déficiente. Cette exception s'observe dans le cas où les cellules ont des propriétés différenciées — comme les cellules musculaires du cur — c'est à dire qu'elles continuent à produire de la phosphodiestérase I. Toutes ces cellules cultivées donnent continuellement la RNase I.     

The significance of mycorrhizas for protective ecosystems

Summary On the basis of the reviews presented in this issue, the ecological significance of mycorrhizal symbioses is discussed. Mycorrhizas may have some importance in the acquisition of mineral nutrients during the productive phase of ecosystems in early stages of succession, but their main role is played during the protective phase of ecosystems in the final stages of succession when most resources are incorporated into biomass. In these successional stages, mycorrhizas short-circuit nutrient cycles by directly reacquiring nutrients in organic form from plant (and fungal) litter, and they may reallocate resources between different plant individuals, preventing loss of resources from the entire ecosystem.     

Sr2+ can become incorporated into an agonist-sensitive,cytoplasmic Ca2+ store in a cell line derived from the equine sweat gland epithelium

We have explored the properties of a Ca²⁺-dependent cell-signalling pathway that becomes active when cultured equine sweat gland cells are stimulated with ATP. The ATP-regulated, Ca²⁺-influx pathway allowed Sr²⁺ to enter the cytoplasm but permitted only a minimal influx of Ba²⁺. Experiments in which cells were repeatedly stimulated with ATP suggested that Sr²⁺, but not Ba²⁺, could become incorporated into the agonist-sensitive, cytoplasmic Ca²⁺ store. Further evidence for this was provided by experiments using ionomycin, a Ca²⁺ ionophore which has no affinity for Sr²⁺.