People with schizophrenia have significantly higher rates of tandem repeats in their genome, up to 7% more than in people without the mental health disorder. The genes were primarily found in genes crucial to brain function.
The Huntington's disease protein huntingtin may have a role external to the neurodegenerative disease. Researchers say Huntingtin is involved in neural injury and regeneration.
Synthesizing a human embryo from stem cells and using gene editing to insert the Huntingtin gene, researchers found the mutation affected the size of germ layers compared to the control embryos. Findings suggest Huntington's disease may be a neurodevelopmental disorder that presents as a neurodegenerative disease later
A mutated form of the huntingtin protein disrupts the normal movement of vesicles holding HT and Rab4. This leads to defects in synapses, resulting in movement abnormalities and lifespan decreases in fruit fly larvae. Findings suggest Rab4 could be a novel therapeutic target for the early intervention of Huntington's disease, before the neuronal loss and behavioral deficits associated with the neurodegenerative disorder.
Mouse models of corticospinal injuries reveal adult neurons begin a natural regeneration process by reverting back to an embryonic state. The regeneration is sustained with the help of a gene more commonly associated with Huntington's disease.
Researchers have identified a mechanism that may reduce the toxic aggregation of the huntingtin protein. The findings could lead to new treatment options for Huntington's patients.