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Showing posts with the label Duchenne Muscular Dystrophy

RotM: Interview with Prof. Steve Winder

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For our recent Researcher of the Month, we spoke to Professor Steve Winder, Professor of Molecular Cell Biology, at the Department of Biomedical Science, The University of Sheffield. His laboratory focuses on the study of dystroglycan, a protein that plays an important role in cell adhesion and signalling. His recent paper in Human Molecular Genetics speaks about the a FDA approved drug, currently being used for treating leukemia as a treatment for Duchenne Muscular Dystrophy (DMD). Here is Professor Win
der telling us more about his lab's findings and how we might cure DMD in the near future. 
CTS : For the benefit of our readers, could you please tell us more about your  findings in the recent study. 
SW: Identification of a systemically acting and universal small molecule therapy for  Duchenne muscular dystrophy would be an enormous advance for this condition. Based on evidence gained from studies on mouse genetic models, we have identified tyrosine phosphorylation and degradation…

The story of Ringo, a dog who escaped Duchenne Muscular Dsytrophy!

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By definition, a genetic disorder is one caused due to defects arising in genes. If you have inherited the defective gene or genes, then you are bound to be affected by the disorder.



A common example is Duchenne Muscular Dystrophy, caused in humans by a defective copy of the Dystrophin gene (DMD) that encodes the dystrohin protein. DMD gene is located on the X chromosome. Since, females in humans have two X chromosomes, one defective copy of the X chromosome makes the person a carrier for the disorder. Muscular Dystrophy usually does not affect females, unless she is the progeny of an affected father and carrier mother. However, males, who inherit only one X chromosome from their mother, have a 50% chance of getting the defective copy of the gene from a carrier mother and therefore are at 50% risk of being affected by muscular dystrophy. That's the thumb rule.

Meet Ringo, a male Golden Retriever, the exception!  


Golden Retrievers are also susceptible to muscular dystrophy, called th…