Institute of Genetic Medicine

Staff Profile

Dr Rita Barresi

Honorary Senior Lecturer

Research

Research Interests

Molecular mechanisms of limb-girdle muscular dystrophies

Muscular Dystrophy research

Muscular dystrophies are a group of inherited diseases leading to muscle weakness and wasting. Together with Professors Bushby and Professor Straub and the neuromuscular research group, we aim to gain insights into the molecular mechanisms of limb-girdle muscular dystrophies (LGMDs) and related disorders. LGMD is a large, heterogeneous group of genetic diseases featuring weakness and wasting that initially affect the muscles of the shoulder girdle and the hips.

Muscular Dystrophy research

The knowledge of the underlying pathomechanisms has deepened considerably over recent years, and it has become evident that membrane stability and its maintenance are crucial for the survival of muscle fibres. Muscle has evolved distinctive mechanisms to maintain plasma membrane integrity, because the repeated cycles of contraction and relaxation apply a considerable amount of stress onto the cell membranes and create membrane breaches. Instability of the plasma membrane can be the result of a problem with a structural membrane protein or where muscle fibre repair and maintenance is impaired. Dystrophies related to the protein dysferlin, LGMD2B or Miyoshi Myopathy are the first disorders identified where it seems that there is a fault in the process of membrane maintenance. Ongoing work in this area is concentrating on the role of dysferlin not only in membrane repair but also during basic cellular processes involved in myogenesis, such as sarcolemmal specialization, myoblast division and fusion.

Key Publications

Michele DE, Barresi R, Kanagawa M, Saito F, Cohn RD, Satz JS, et al. (2002) Post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies. Nature 418:417-422

Barresi R, Michele DE, Kanagawa M, Harper HA, Dovico SA, Satz JS, et al. (2004) LARGE can functionally bypass alpha-dystroglycan glycosylation defects in distinct congenital muscular dystrophies. Nat Med 10:696-703

Klinge L, Laval S, Keers S, Haldane F, Straub V, Barresi R, et al. (2007) From T-tubule to sarcolemma: damage-induced dysferlin translocation in early myogenesis. Faseb J 21: on-line March 15

Co-workers

Yen Hui Chui BSc MSc
PhD student
Debbie Hicks BSc
Muscular Dystrophy Campaign Junior Research Associate
Mark Hornsey BSc PhD
Jain Foundation Research Associate
Lars Klinge MD
German Research Council fellowship

Publications