Hypercontraction and Drosophila : a model system for the study of human myopathies

Currently, there are no therapeutic interventions which fully alleviate the defects associated with muscular dystrophies and cardiomyopathies. Development of model systems in which to utilize high-throughput screens for novel compounds will help in drug discovery for these diseases. In addition, genetic model systems will allow us to dissect the molecular and cellular pathways activated in response to mutations that affect muscle function, increasing our understanding of the underlying physiology of normal and diseased muscles. Here we present work establishing Drosophila as a model system for human muscular dystrophies and cardiomyopathies. Characterization of hypercontraction- induced myopathy caused by mutations in Myosin Heavy Chain has led to a potential mechanism of hypercontraction through unregulated contraction cycles in mutant muscles. In addition, hypercontraction defects cause temperature-sensitive myogenic seizures due to an altered state of the muscle which is fundamentally different than normal and hypocontracted muscle.

Department dc:contributor.department

Massachusetts Institute of Technology. Dept. of Biology.

Grantor dc:publisher

Massachusetts Institute of Technology

Year dc:date.issued

2005

Author dc:creator

• Montana, Enrico Sakai

Advisor dc:contributor.advisor

• J. Troy Littleton.

• Biology.

Statement dc:rights

• M.I.T. theses are protected by copyright. They may be viewed from this source for any purpose, but reproduction or distribution in any format is prohibited without written permission. See provided URL for inquiries about permission.

Licence dc:rights.uri

• http://dspace.mit.edu/handle/1721.1/33753
• http://dspace.mit.edu/handle/1721.1/7582

Language dc:language.iso

eng

Identifier URI

http://dspace.mit.edu/handle/1721.1/33753

OAI identifier oai:identifier

oai:dspace.mit.edu:1721.1/33753