sciencesconf.org:neurophdmeeting:96630

Huntington’s disease (HD) is a rare multisystemic neurodegenerative disorder combining psychiatric, cognitive and motor impairments. Muscle manifestations are recently proved to be independent from neurodegeneration. Therefore, specific mechanisms may be involved in muscle. HD is caused by an increase in CAG repeats in the huntingtin gene, resulting in an expansion of polyglutamine stretch in the protein. This induced a loss of the huntingtin protein (HTT) normal function associated with production of a mutant protein. HTT is a ubiquitous microtubules associated protein, with numerous functions among which vesicles and organelles traffic along microtubules. One of its functions could be the traffic of reticulum vesicles to form contact point with the plasma membrane in neurons. In skeletal muscle, the contact points between sarcoplasmic reticulum and plasma membrane (T-Tubule), called the triads, are…


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