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Special Issue "Molecular Mechanisms of Polyglutamine Diseases"

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Neurobiology".

Deadline for manuscript submissions: 30 September 2021.

Special Issue Editor

Prof. Dr. Clévio Nóbrega
E-Mail Website
Guest Editor
Universidade do Algarve, Faro, Portugal
Interests: gene therapy; polyglutamine diseases; ataxin-2; ataxin-3; neurodegeneration; stress granules

Special Issue Information

Dear Colleagues,

Polyglutamine diseases comprise a group of nine inherited neurodegenerative disorders caused by an abnormal mutation of a CAG tract within the coding region of the causative gene. This abnormal repetition codifies for an abnormal glutamine tract in the respective protein, which tends to aggregate, forming intraneuronal inclusions that are a neuropathological feature of these diseases. Currently, there is no cure to stop or delay disease progression, which culminates with the death of the patients.

The genetic basis for the diseases is established, however, the molecular mechanisms leading to the neuronal dysfunction and degeneration observed in selected regions of the brain of these patients are not completely characterized. This knowledge is important to better design and test new therapies that could represent a hope for the patients and an opportunity to stop the disease progression.

In these special number, we expect to gather a group of research studies and reviews aiming to advance the current knowledge of polyglutamine disease molecular mechanisms, but also providing a view of potential treatments and future clinical trials.

Prof. Dr. Clévio Nóbrega
Guest Editor

Manuscript Submission Information

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Keywords

  • Polyglutamine diseases
  • Genetics
  • Huntington’s disease
  • Spinocerebellar ataxias
  • Neurodegeneration
  • Aggregation
  • Disease mechanisms
  • Disease models
  • Biomarkers
  • Therapeutic approaches

Published Papers (2 papers)

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Review

Open AccessReview
Current Status of Gene Therapy Research in Polyglutamine Spinocerebellar Ataxias
Int. J. Mol. Sci. 2021, 22(8), 4249; https://0-doi-org.brum.beds.ac.uk/10.3390/ijms22084249 - 19 Apr 2021
Viewed by 357
Abstract
Polyglutamine spinocerebellar ataxias (PolyQ SCAs) are a group of 6 rare autosomal dominant diseases, which arise from an abnormal CAG repeat expansion in the coding region of their causative gene. These neurodegenerative ataxic disorders are characterized by progressive cerebellar degeneration, which translates into [...] Read more.
Polyglutamine spinocerebellar ataxias (PolyQ SCAs) are a group of 6 rare autosomal dominant diseases, which arise from an abnormal CAG repeat expansion in the coding region of their causative gene. These neurodegenerative ataxic disorders are characterized by progressive cerebellar degeneration, which translates into progressive ataxia, the main clinical feature, often accompanied by oculomotor deficits and dysarthria. Currently, PolyQ SCAs treatment is limited only to symptomatic mitigation, and no therapy is available to stop or delay the disease progression, which culminates with death. Over the last years, many promising gene therapy approaches were investigated in preclinical studies and could lead to a future treatment to stop or delay the disease development. Here, we summed up the most promising of these therapies, categorizing them in gene augmentation therapy, gene silencing strategies, and gene edition approaches. While several of the reviewed strategies are promising, there is still a gap from the preclinical results obtained and their translation to clinical studies. However, there is an increase in the number of approved gene therapies, as well as a constant development in their safety and efficacy profiles. Thus, it is expected that in a near future some of the promising strategies reviewed here could be tested in a clinical setting and if successful provide hope for SCAs patients. Full article
(This article belongs to the Special Issue Molecular Mechanisms of Polyglutamine Diseases)
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Open AccessReview
Emerging Roles of Exosomes in Huntington’s Disease
Int. J. Mol. Sci. 2021, 22(8), 4085; https://0-doi-org.brum.beds.ac.uk/10.3390/ijms22084085 - 15 Apr 2021
Viewed by 430
Abstract
Huntington’s disease (HD) is a rare hereditary autosomal dominant neurodegenerative disorder, which is caused by expression of mutant huntingtin protein (mHTT) with an abnormal number of glutamine repeats in its N terminus, and characterized by intracellular mHTT aggregates (inclusions) in the brain. Exosomes [...] Read more.
Huntington’s disease (HD) is a rare hereditary autosomal dominant neurodegenerative disorder, which is caused by expression of mutant huntingtin protein (mHTT) with an abnormal number of glutamine repeats in its N terminus, and characterized by intracellular mHTT aggregates (inclusions) in the brain. Exosomes are small extracellular vesicles that are secreted generally by all cell types and can be isolated from almost all body fluids such as blood, urine, saliva, and cerebrospinal fluid. Exosomes may participate in the spreading of toxic misfolded proteins across the central nervous system in neurodegenerative diseases. In HD, such propagation of mHTT was observed both in vitro and in vivo. On the other hand, exosomes might carry molecules with neuroprotective effects. In addition, due to their capability to cross blood-brain barrier, exosomes hold great potential as sources of biomarkers available from periphery or carriers of therapeutics into the central nervous system. In this review, we discuss the emerging roles of exosomes in HD pathogenesis, diagnosis, and therapy. Full article
(This article belongs to the Special Issue Molecular Mechanisms of Polyglutamine Diseases)
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