Author Interviews, Genetic Research / 26.02.2017

MedicalResearch.com Interview with: Dr Chiara Manzini PhD Assistant Professor of Pharmacology and Physiology, and Integrative Systems Biology George Washington University MedicalResearch.com: What is the background for this study? What are the main findings? Response: I have been working on finding genes that are mutated in rare forms of muscular dystrophy associated with brain and eye deficits for many years. In the current study, which was a large collaborative effort, we found that mutations in the INPP5K gene cause a new type of muscular dystrophy with short stature, intellectual disability and cataracts. INPP5K is critical for processing a chemical called inositol phosphate which has multiple functions within the cell. We found that the mutations in the patients severely disrupt INPP5K function and when we removed the gene during zebrafish development, the fish showed the same findings observed in the patients: small size, disrupted muscle structure and eye deficits. We are very excited because this is a new disease gene for muscular dystrophy and a novel disease mechanisms, which can open up multiple new lines of investigation. (more…)
Author Interviews, Genetic Research / 08.06.2016

MedicalResearch.com Interview with: Dr Addolorata Pisconti Ph.D. Department of Biochemistry Institute of Integrative Biology University of Liverpool Liverpool United Kingdom MedicalResearch.com: What is the background for this study? Dr. Pisconti: Duchenne muscular dystrophy (DMD) is a genetic disorder caused by lack of the cytoskeletal protein dystrophin which, under normal conditions, protects the muscle fibres during the stress of contraction. In the absence of dystrophin, muscle fibres are more fragile and are easily damaged leading to progressive loss of muscle mass and strength, loss of ambulation, difficulties breathing, cardiomyopathy and eventually premature death. There is no cure for DMD. In Duchenne muscular dystrophy the resident muscle stem cells are impaired and therefore regeneration of damaged muscle fibres is also impaired. Some of the mechanisms leading to impaired muscle stem cell function have been hypothesised, however this remains to date an elusive topic. Chronic inflammation and fibrosis are a hallmark of dystrophic muscle but how they affect muscle stem cells and their regenerative potential remains largely unknown. (more…)