International Mammalian Genome Society

logo18th International Mouse Genome Conference

17-22 October 2004, Seattle, USA


POSTER 145 - CHOLINE KINASE BETA AND A MURINE MODEL OF MUSCULAR DYSTROPHY

Sher RB, Cox GA

The Jackson Laboratory, Bar Harbor, United States

In August 2001, mice in a colony at The Jackson Laboratory developed a muscular dystrophy (MD) resulting from a spontaneous recessive mutation on Chromosome 15.  The disease is observable around birth with a disordered forelimb bone development, and mice rapidly develop a progressive muscular dystrophy.  The causative gene has recently been identified as Choline Kinase eta (Chk-eta), which is involved in the first step of the production of phosphatidylcholine.  A mutation in Chk-eta does not correspond to any currently identified human muscular dystrophy.

Of the two major forms of MD membrane defects, the first results in inherent instability of the membrane through faulty structural proteins.  The second is due to compromised membrane repair after normal membrane tearing.  Recently, the loss of dysferlin has been shown to be the cause of Limb-Girdle MD due to its role in resealing muscle membrane tears.

Our MD model involves a gene involved in the production of one of the major constituents of muscle cell membranes, and may be involved in membrane repair, and therefore related to the dysferlin dystrophies.  Potential therapies for muscular dystrophies depend upon detailed knowledge of both the genetic and functional causes of the diseases. New animal models such as this may assist in the discovery of novel mechanisms of disease progression, and therefore may aid in the development of therapeutic treatments. Understanding the biology of this mouse line may provide important insight into the biological pathways leading to muscular dystrophy and muscle repair.

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