MDA's SEARCH FOR A CAUSE
MDA-funded scientists are pursuing the causes of Charcot-Marie-Tooth disease by studying the biological effects of the genetic defects they have already identified and searching for others that may cause this disorder.
Once genetic defects that cause disorders are identified, researchers can begin to uncover how these abnormalities lead to a disease and try to develop treatments for it.
Research in CMT in the mid-1990s has resulted in greatly improved understanding of how the myelin sheath is made and how it holds together. Abnormalities in genes for any of the several proteins that make up myelin probably affect myelin in ways that could keep it from doing its crucial job of insulating the nerve. They could, for example, cause myelin, which wraps around the nerve in layers, to come apart more easily, or impair transport of nutrients through the myelin layers, or cause the overall myelin structure to be more fragile. Research suggests that all these things can happen when various genetic abnormalities occur.
MDA researchers are continuing to study nerve function and development, particularly in relation to myelin, for insights into the processes involved in CMT.
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