Опубликована: Апрель 10, 2024

Polyglutamine (polyQ) diseases are a group of inherited neurodegenerative disorders caused by expanded cytosine-adenine-guanine (CAG) repeats encoding proteins with abnormally polyglutamine tract. A total nine polyQ have been identified, including Huntington's disease, six spinocerebellar ataxias, dentatorubral pallidoluysian atrophy (DRPLA), and spinal bulbar muscular (SBMA). The this class each considered rare, yet constitute the largest monogenic disorders. While subtype has its own causative gene, certain pathologic molecular attributes implicated in virtually all diseases, protein aggregation, proteolytic cleavage, neuronal dysfunction, transcription dysregulation, autophagy impairment, mitochondrial dysfunction. Although animal models disease available helping to understand their pathogenesis access disease-modifying therapies, there is neither cure nor prevention for these only symptomatic treatments available. In paper, we analyze data from CAS Content Collection summarize research progress diseases. We examine publication landscape area effort provide insights into current knowledge advances developments. review most discussed concepts assess strategies combat Finally, inspect clinical applications products against development pipelines. objective broad overview evolving regarding outline challenges, evaluate growth opportunities further efforts combating

Язык: Английский