Dear All

it is my pleasure to invite you to the next Nencki Institute seminar on the 3^rd of November at 3pm. We will host prof. Patryk Konieczny, from the Integrated Genomics lab at the Institute of Anthropology of the Adam Mickiewicz University in Poznan, who will give a lecture entitled: The role of dystrophin and utrophin isoforms and their functional domains in therapeutic aspects of Duchenne muscular dystrophy

Abstract

Duchenne muscular dystrophy (DMD) is an X chromosome-linked disease caused by lack of functional dystrophin. The most evident feature of DMD is progressive musculature disability underlined by loss of myofibers. With time, the extent of muscle fiber loss is so vast that patients are forced to use a wheelchair and respiratory system aid to help diaphragm sustain breathing. As of today, the disease is incurable and leads to early premature death. Shadowing progressive skeletal muscular dystrophy and heart problems, DMD patients also suffer from cognitive deficits and psychiatric symptoms that are linked to loss of specific dystrophin isoforms. In the past, DMD research focused mostly on structural properties of dystrophin and its paralog, utrophin, a protein able to compensate for the loss of dystrophin to some extent. However, apart from their roles in linking the extracellular matrix and the inner cytoskeleton inside the myofibers and stabilizing the myofibers against the contraction-induced injury, more recent data indicate that dystrophin and utrophin serve as important components in signal transmission pathways and crosstalk between various cell types. My group aims to identify the roles of various dystrophin and utrophin isoforms as well as their specific protein domains in signal transduction pathways and their contribution to specific biological phenomena, including cell proliferation, cell growth, homeostasis maintenance and survival. This work is intended to broaden our understanding of dystrophin loss-mediated pathological alterations in various tissues that could be then translated into a holistic therapy for DMD.

The seminar will be followed by a get together.

Best regards
Aleksandra Pękowska