Home :

Thyrotoxic hypokalemic periodic paralysis (TPP) is a rare complication of hyperthyroidism characterized by episodes of muscle weakness and hypokalemia. The muscle weakness may be confined to a small group of muscles such as the forearm and hand muscles resulting in weakness of grip. Alternatively, the muscle weakness may be more generalized and the patient may be completely unable to move for hours, up to days at a time. Approximately 0.1% of Caucasians with hyperthyroidism develop TPP, while the incidence is up to 10 times higher in Latin American and Asian populations. Until recently, TPP was known to be associated with attacks of thyrotoxicosis and was previously thought not to be a genetic condition. In this study led by Dr Louis Ptacek at the University of California, researchers examined genes known to be involved in ion channel formation in muscle.

>To know more

In this study, Fabio Rossi and colleagues at the University of British Columbia have identified new potential targets for the treatment of muscle diseases such as muscular dystrophy and fibrosis. They describe a new subpopulation of fibro/adipogenic progenitors (FAPs) that generate ectopic white fat when transplanted (subcutaneously or intramuscularly) into damaged muscles in mice, but not in healthy muscle. This indicates that the environment controls their engraftment.

>To know more

Myotonic Dystrophy (DM) is a multisystemic disorder and the second most common form of muscular dystrophy. Major features of the disease include myotonia, muscle wasting, insulin resistance, cardiac conduction defects, cataracts, cognitive dysfunction and mental retardation in the most severe congenital form of the disease. Myotonic dystrophy type 1 (DM1) is caused by expansion of a CTG repeat in the DMPK gene. The predominant mechanism of pathogenesis is a toxic gain of function of CUG repeats containing RNA transcribed from the expanded allele. The molecular mechanisms by which the RNA containing expanded repeats produce pathogenic effects include: sequestration of muscleblind-like 1 (MBNL1) protein and up-regulation of CUG binding protein 1 (CUGBP1). Cardiac manifestations occur in more than 80% of individuals with DM1. Conduction abnormalities often progress to life-threatening arrhythmias such that sudden death due to cardiac causes occurs in up to 30% of individuals with DM1. Previous studies have shown that cardiovascular disease comprised the second most common cause of mortality. In this study, Misha Koshelev and colleagues aimed to determine whether CUGBP1 overexpression in cardiac tissue is sufficient to reproduce the cardiac phenotype of DM1.

>To know more