Mutations in the muscle chloride channel gene CLCN1 cause myotonia congenita, an inherited disorder of skeletal muscle excitability leading to a delayed relaxation after muscle contraction. Here, we examine the functional consequences of a novel disease-causing mutation that predicts the substitution of alanine by threonine at position 331 (A331T) by whole-cell patch-clamp recording of recombin...

Kennedy disease, a degenerative disorder characterized by androgen-dependent neuromuscular weakness, is caused by a CAG/glutamine tract expansion in the androgen receptor (Ar) gene. We developed a mouse model of Kennedy disease, using gene targeting to convert mouse androgen receptor (AR) to human sequence while introducing 113 glutamines. AR113Q mice developed hormone and glutamine length-depe...

Huntington disease is a progressive and fatal genetic disorder with debilitating motor and cognitive defects. Chorea, rigidity, dystonia, and muscle weakness are characteristic motor defects of the disease that are commonly attributed to central neurodegeneration. However, no previous study has examined the membrane properties that control contraction in Huntington disease muscle. We show prima...

background: in vitro simulation of developmental processes is an invaluable tool to shed light on the intrinsic mechanism of developmental biosystems such as central nervous system in mammals. chick somites have been used to simulate the neural differentiation of human neural progenitor cells. in the present study, we aimed to indicate whether somites have the ability to express required neural...

a sweet water-soluble protein that reminds stable over wide ranges of temperature and ph, brazzein has various applications. its tastes like cane sugar but have no calories. however, the extraction of brazzein from its natural source is expensive and not applicable. in this study we used recombinant dna technology to provide an alternative option for cheaper mass production of brazzein. a brazz...

we present the first reported case of antiphospholipid syndrome with stroke in an iranian boy (7-month-old) who had two ischemic strokes within a period of 2 months. serum anticardiolipid antibody was positive and the patient had low levels of protein s and c. this case emphasizes the importance of antiphospholipid antibody in children with unexplained ischemic stroke.

animal agricultural production systems are major sources of nonpoint pollution affecting quality of water sources. nitrogen has been identified as the foremost source of nonpoint water pollution  and the potential negative impacts of n have become an area of public concern. protein degradation from feed ingredients is an important factorinfluencing aa supply to the duodenum. ruminal proteolysis...

Myotonic dystrophy type 1 (DM1) is caused by abnormal expansion of CTG repeats in the 3' untranslated region of the DMPK gene. Expanded CTG repeats are transcribed into RNA and make an aggregate with a splicing regulator, MBNL1, in the nucleus, which is called the nuclear foci. The nuclear foci sequestrates and downregulates availability of MBNL1. Symptomatic treatments are available for DM1, b...

Autosomal dominant myotonia congenita is an inherited disorder of skeletal muscle caused by mutations in a voltage-gated Cl- channel gene (CLCN1, 7q35). Here, we report that a mutation predicting the substitution of Gly 230 by glutamic acid (G230E) between segments D3 and D4 dramatically alters the pore properties of a recombinant human muscle Cl- channel (hCIC-1) expressed in a mammalian cell ...

OBJECTIVE To redefine phenotypical characteristics for both chloride (ClCh) and sodium channelopathies (NaCh) in non-dystrophic myotonic syndromes (NDM). METHODS In a cross-sectional, nationwide study, standardised interviews and clinical bedside tests were performed in 62 genetically confirmed NDM patients, 32 ClCh and 30 NaCh. RESULTS Standardised interviews revealed that ClCh reported a ...