Topic: CAG repeats

Huntington's Disease (HD) is a monogenic and neurodegenerative disorder cause by an abnormal amount of CAG repeats in the exon 1 of the huntingtin gene, responsible for numerous transcriptional and cellular process dysfunctions, leading to neuronal death. HD mainly targets the medium spiny neurons of the striatum and more broadly the corticostriatal pathway, but other brain areas, such as the hippocampus, are also affected at more advanced stages of the disease. These deregulations are responsible for a triad of symtoms, consisting in cognitive and psychiatric symptoms that occur prior to the

Huntington’s disease (HD) is a fatal neurodegenerative disorder known for thirty years to be caused by an aberrant expansion of CAG repeats in the HTT gene. Still, no specific biomarkers are routinely applied in the clinical management of patients. The retina is the most accessible area of the CNS system that enables noninvasive monitoring of HD mutation carriers, but we need first to determine how retinal alterations correlate with those of inner brain areas. To this aim, we analyzed the transgenic R6/1 and the knockin zQ175 mouse strains using optical coherence tomography (OCT), gene express

Age-related neurodegenerative diseases are becoming more prevalent as human lifespan increases. Modeling human aging is challenging in the lab. We use transdifferentiation via an all-in-one lentiviral vector to directly reprogram human donor-derived fibroblasts into induced neurons (iN). The advantage of this methodology is the maintaining of age and disease-related signatures of the donor cells as iNs bypass the intermediary cell rejuvenation.Huntington’s disease (HD) is an autosomal dominant age-related neurodegenerative disorder caused by a mutated Huntingtin (HTT) gene containing an expans