Research Briefs: DMD, FA, DM, PM, IBM, MG, LEMS

News on Duchenne muscular dystrophy, Friedreich's ataxia, autoimmune diseases, and cell and gene therapies

by Margaret Wahl on September 24, 2010 - 1:39pm

Duchenne muscular dystrophy

Brown University has licensed a potential treatment for Duchenne muscular dystrophy (DMD) to the biotech startup Tivorsan Pharmaceuticals for further development. The potential treatment is based on a protein called biglycan, which has been the subject of research by Justin Fallon, a neuroscientist and former MDA research grantee at Brown. See Brown licenses potential muscular dystrophy treatment to Tivorsan Pharmaceuticals.

Friedreich's ataxia

A small study found that personal FM listening devices dramatically improved the ability of people with Friedreich's ataxia (FA) to perceive speech in everyday situations, such as in the presence of background noise. The systems the investigators tested, made by Phonak, consisted of a microphone and transmitter worn by a speaker that allows sound to be sent wirelessly to a tiny FM receiver worn by a listener. See Successful treatment of auditory perceptual disorder in individuals with Friedreich ataxia.

Immunology and autoimmunity

Understanding and ultimately controlling the immune response is likely to lead to advances in treating autoimmune diseases, such as dermatomyositis (DM), polymyositis (PM), inclusion-body myositis (IBM), myasthenia gravis (MG) and Lambert-Eaton myasthenic syndrome (LEMS). In addition, understanding immune responses is crucial to transplanting potentially therapeutic cells and inserting potentially therapeutic genes (see Caution: Immune Response Seen in DMD Gene Therapy).

Three recent findings, summarized below, add to the body of knowledge about the immune response.

A "systems genetics" approach has allowed researchers to identify a network of genes involved in the immune response and to show that a variant in a single gene controlling this network increases susceptibility to the autoimmune disease type 1 diabetes. See A trans-acting locus regulates an anti-viral expression network and type 1 diabetes risk.

Scientists have identified a new type of immune-system regulatory T cell that's involved in preventing the body from producing antibodies against its own tissues. See Inhibition of follicular T-helper cells by CD8(+) regulatory T cells is essential for self tolerance.

A molecular "switch" called S1P1 has been identified as a key determinant of whether immune-system T cells become T helper cells, augmenting an immune response, or T regulatory cells, which dampen an immune response. See The S1P(1)-mTOR axis directs the reciprocal differentiation of T(H)1 and T(reg) cells.

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