{Reference Type}: Journal Article
{Title}: Recent approaches on Huntington's disease (Review).
{Author}: Palaiogeorgou AM;Papakonstantinou E;Golfinopoulou R;Sigala M;Mitsis T;Papageorgiou L;Diakou I;Pierouli K;Dragoumani K;Spandidos DA;Bacopoulou F;Chrousos GP;Eliopoulos E;Vlachakis D;
{Journal}: Biomed Rep
{Volume}: 18
{Issue}: 1
{Year}: Jan 2023
暂无{DOI}: 10.3892/br.2022.1587
{Abstract}: Huntington's disease (HD) is a neurodegenerative disorder characterized by severe motor, cognitive and psychiatric symptoms. Patients of all ages can present with a dysfunction of the nervous system, which leads to the progressive loss of movement control and disabilities in speech, swallowing, communications, etc. The molecular basis of the disease is well-known, as HD is related to a mutated gene, a trinucleotide expansion, which encodes to the huntingtin protein. This protein is linked to neurogenesis and the loss of its function leads to neurodegenerative disorders. Although the genetic cause of the disorder has been known for decades, no effective treatment is yet available to prevent onset or to eliminate the progression of symptoms. Thus, the present review focused on the development of novel methods for the timely and accurate diagnosis of HD in an aim to aid the development of therapies which may reduce the severity of the symptoms and control their progression. The majority of the therapies include gene-silencing mechanisms of the mutated huntingtin gene aiming to suppress its expression, and the use of various substances as drugs with highly promising results. In the present review, the latest approaches on the diagnosis of HD are discussed along with the need for genetic counseling and an up-to-date presentation of the applied treatments.