Professor Angelini identifies a method to assess the progression of Limb-Girdle Muscular Dystrophy

Prof Corrado Angelini is an Italian researcher and neurologist, with a long experience recognized worldwide in the field of neurology, in addition to being one of the greatest architects of the discovery of the gene that causes our disease, which marked the beginning of everything that we are studying now.

A study of his was recently published in the journal Genes, together with Valentina Pegoraro of the IRCCS San Camillo Hospital in Venice (Italy), in which 11 patients who suffered from different forms of Limb-girdle Muscular Dystrophy, specifically transportinopathy (LGMDD2), sarcoglycan (LGMDR5) and calpainopathy (LGMDR1). The genetic mutations of these patients and the circulation of miR-206 in the blood were analyzed, as well as muscle MRIs performed at 1.5 Tesla. It has been seen that the severe evolution of the disease is associated with elevated levels of miR-206 compared to the control group. In particular, up to 50-80-fold overexpression was observed in two patients with a severe course and early onset of transporinopathy and calpainopathy. Muscle magnetic resonance imaging has shown atrophy and loss of muscle mass in these patients. Therefore, this study is the first evidence that miR-206 is associated with the phenotypic expression of the disease and can be used as an indicator of the progression of Limb-Girdle Muscular Dystrophy.

You can see the aforementioned article in THIS LINK.