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63845

Polyglutamine (PolyQ) Diseases: Molecular pathology to treatment

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Last updated: 24 Dec 2024

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Abstract

The polyglutamine (polyQ) diseases are a group of neurodegenerative disorders caused by expanded cytosine– adenine–guanine (CAG) repeats encoding a long polyQ tract in the respective proteins. To date, a total of nine polyQ disorders have been described: the most common six spinocerebellar ataxias (SCA) types 1, 2, 6, 7, 17; Machado–Joseph disease (MJD/SCA3); Huntington's disease (HD); dentatorubral pallidoluysian atrophy (DRPLA); and spinal and bulbar muscular atrophy, X-linked 1 (SMAX1/SBMA). PolyQ diseases are characterized by the pathological expansion of CAG trinucleotide repeat in the translated region of unrelated genes. The translated polyQ is aggregated in the degenerated neurons leading to the dysfunction and degeneration of specific neuronal subpopulations. Although animal models of polyQ disease for understanding human pathology and accessing disease-modifying therapies in neurodegenerative diseases are available, there is neither a cure nor prevention for these diseases, and only symptomatic treatments for polyQ diseases currently exist. Long-term pharmacological treatment is so far disappointing, probably due to unwanted complications and decreasing drug efficacy. Cellular transplantation of stem cells may provide promising therapeutic avenues for restoration of the functions of degenerative and/or damaged neurons in polyQ 

DOI

10.21608/blj.2015.63845

Authors

First Name

Ahmed

Last Name

Fawzy

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Affiliation

Division of Human Genetics & Genome Researches, Department of Molecular Genetics and Enzymology, National Research Centre, 33 Bohouth St. Dokki, Giza, Egypt.

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Volume

11

Article Issue

1

Related Issue

7449

Issue Date

2015-09-01

Receive Date

2015-10-03

Publish Date

2015-12-01

Page Start

114

Page End

145

Print ISSN

1687-4773

Online ISSN

2974-4725

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https://blj.journals.ekb.eg/article_63845.html

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https://blj.journals.ekb.eg/service?article_code=63845

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12

Publication Type

Journal

Publication Title

Biochemistry Letters

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https://blj.journals.ekb.eg/

MainTitle

Polyglutamine (PolyQ) Diseases: Molecular pathology to treatment

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Article

Created At

22 Jan 2023