[HTML][HTML] Dysferlin-mediated membrane repair protects the heart from stress-induced left ventricular injury

R Han, D Bansal, K Miyake, VP Muniz… - The Journal of …, 2007 - Am Soc Clin Investig
R Han, D Bansal, K Miyake, VP Muniz, RM Weiss, PL McNeil, KP Campbell
The Journal of clinical investigation, 2007Am Soc Clin Investig
Dilated cardiomyopathy is a life-threatening syndrome that can arise from a myriad of
causes, but predisposition toward this malady is inherited in many cases. A number of
inherited forms of dilated cardiomyopathy arise from mutations in genes that encode
proteins involved in linking the cytoskeleton to the extracellular matrix, and disruption of this
link renders the cell membrane more susceptible to injury. Membrane repair is an important
cellular mechanism that animal cells have developed to survive membrane disruption. We …
Dilated cardiomyopathy is a life-threatening syndrome that can arise from a myriad of causes, but predisposition toward this malady is inherited in many cases. A number of inherited forms of dilated cardiomyopathy arise from mutations in genes that encode proteins involved in linking the cytoskeleton to the extracellular matrix, and disruption of this link renders the cell membrane more susceptible to injury. Membrane repair is an important cellular mechanism that animal cells have developed to survive membrane disruption. We have previously shown that dysferlin deficiency leads to defective membrane resealing in skeletal muscle and muscle necrosis; however, the function of dysferlin in the heart remains to be determined. Here, we demonstrate that dysferlin is also involved in cardiomyocyte membrane repair and that dysferlin deficiency leads to cardiomyopathy. In particular, stress exercise disturbs left ventricular function in dysferlin-null mice and increases Evans blue dye uptake in dysferlin-deficient cardiomyocytes. Furthermore, a combined deficiency of dystrophin and dysferlin leads to early onset cardiomyopathy. Our results suggest that dysferlin-mediated membrane repair is important for maintaining membrane integrity of cardiomyocytes, particularly under conditions of mechanical stress. Thus, our study establishes what we believe is a novel mechanism underlying the cardiomyopathy that results from a defective membrane repair in the absence of dysferlin.
The Journal of Clinical Investigation