Special Issue "Polyglutamine (PolyQ) Disorders"
A special issue of Brain Sciences (ISSN 2076-3425).
Deadline for manuscript submissions: closed (30 April 2017) | Viewed by 14222
Interests: molecular mechanism of neurodegenerations; therepeutic implicatoins; iPSCs-based disease modeling; antisense oligonucleotide (ASO) based therapy
The polyglutamine (PolyQ) expansion disease family encompasses at least nine heritable disorders, including Huntington disease (HD) and the spinocerebellar ataxias SCA1, SCA2, SCA3 (Machado-Joseph disease), SCA6, SCA7, SCA17, spinal bulbar muscular atrophy (SBMA), and dentatorubral-pallidoluysian atrophy. At the molecular level, diseases are results from the expansion of CAG repeat that codes for the glutamine tract. A pathological hallmark of disorders is progressive neurodegeneration with accumulation of mutant protein aggregates. It is still unknown if these aggregates are pathogenic or protective to the cells. It is widely believed that the gain of protein function is primary cause for pathological events. From recent and intriguing findings, it is known that repeat associated non-ATG (RAN) translation and RNA gain of toxic functions (e.g., HD) also play a crucial role in determining pathology. In most PolyQ disorders, the severity of disease is inversely correlated with the length of the PolyQ repeat.
Even though mutant proteins express ubiquitously, the molecular mechanism behind the selective vulnerability of each disorder is unknown. Lack of knowledge regarding this phenomenon has hampered the study of disease pathogenesis, as well as the identification of biomarkers to monitor disease progression. Understanding the molecular dysfunctions which take place before disease onset is particularly relevant for therapeutic purposes, as a possible pharmacologic intervention targeting the pre-symptomatic stages of disease is more likely to prevent its later clinical manifestation.
Dr. Chandrakanth Edamakanti
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- CAG repeatlenth disorders
- Spinocerebellar Ataxias
- Atrophy of cerebellum
- Huntington’s disease
- Movement disorders
- Spinal and bulbar muscular atrophy