Sarah Petty: Research

THE MISFOLDING AND AGGREGATION OF HUNTINGTIN

Huntington's disease is a neurodegenerative, hereditary disease. Its symptoms include loss of motor function, uncontrollable movement, aggression and dementia.

The disease is associated with an extension of the polyglutamine tail at the N-terminus of the Huntingtin protein. These stretches of glutamines can aggregate into fibrous bundles known as neuronal inclusions. The length of the polyglutamine stretch is intrinsically linked to the age of onset of the disease.

In this project we aim to structurally characterize the polyglutamine region of Huntingtin, at lengths above and below the pathogenic threashold. Additionally, we are probing the reasons for the inherent stability of the glutamine aggregates using site directed mutagenesis.


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		THE MISFOLDING AND AGGREGATION OF HUNTINGTIN Huntington's disease is a neurodegenerative, hereditary disease. Its symptoms include loss of motor function, uncontrollable movement, aggression and dementia. The disease is associated with an extension of the polyglutamine tail at the N-terminus of the Huntingtin protein. These stretches of glutamines can aggregate into fibrous bundles known as neuronal inclusions. The length of the polyglutamine stretch is intrinsically linked to the age of onset of the disease. In this project we aim to structurally characterize the polyglutamine region of Huntingtin, at lengths above and below the pathogenic threashold. Additionally, we are probing the reasons for the inherent stability of the glutamine aggregates using site directed mutagenesis.