Huntington

o HD overview: Huntington’s Disease (HD) is an inherited neurodegenerative genetic disease characterized by a progressive dysfunction and neuronal loss. HD is considered a movement disorder where slow, abnormal or involuntary movements are present but other symptoms may also appear, like cognitive impairment, including impulsiveness and poor attention, and psychiatric symptoms like depression or compulsiveness.

o Treatment: Current medications can lessen the symptoms but they do not alter the progression of the disease. Due to the multitude of symptoms and the different onset that they may have, medication is usually adapted to each patient and is usually a combination of drugs and physical therapy.

o Strategy and mechanism of action proposed by nLife: HD is caused by a genetic defect on a single gene called Huntingtin (HTT). This gene has a section that is a repetition of three nucleotides (CAG repeat) that is translated in a protein with a polyglutamine tract. When this repetition occurs many more times than it is supposed to (more than 36) the resulting protein is toxic for certain type of neurons and the individuals carrying these repetitions have a chance to develop the disease. The larger the number of repeats the higher the risk of developing HD at an earlier age. nLife´s strategy is to reduce the accumulation of the protein resulting from the translation of the defective gene in the neurons where is toxic and to develop a gene therapy capable of decreasing the number of CAG repeats using the targeting technology.

See News section: how an antisense offers hopes HD patients and about the “huntingtin holiday”