Polyglutamine Disorders (advances In Experimental Medicine And Biology)
by Clévio Nóbrega /
2018 / English / PDF
13.7 MB Download
This book provides a cutting-edge review of polyglutamine
disorders. It primarily focuses on two main aspects: (1) the
mechanisms underlying the pathologies’ development and
progression, and (2) the therapeutic strategies that are
currently being explored to stop or delay disease
progression.
This book provides a cutting-edge review of polyglutamine
disorders. It primarily focuses on two main aspects: (1) the
mechanisms underlying the pathologies’ development and
progression, and (2) the therapeutic strategies that are
currently being explored to stop or delay disease
progression.
Polyglutamine (polyQ) disorders are a group of inherited
neurodegenerative diseases with a fatal outcome that are caused
by an abnormal expansion of a coding trinucleotide repeat (CAG),
which is then translated in an abnormal protein with an elongated
glutamine tract (Q). To date, nine polyQ disorders have been
identified and described: dentatorubral-pallidoluysian atrophy
(DRPLA); Huntington’s disease (HD); spinal–bulbar muscular
atrophy (SBMA); and six spinocerebellar ataxias (SCA 1, 2, 3, 6,
7, and 17).
Polyglutamine (polyQ) disorders are a group of inherited
neurodegenerative diseases with a fatal outcome that are caused
by an abnormal expansion of a coding trinucleotide repeat (CAG),
which is then translated in an abnormal protein with an elongated
glutamine tract (Q). To date, nine polyQ disorders have been
identified and described: dentatorubral-pallidoluysian atrophy
(DRPLA); Huntington’s disease (HD); spinal–bulbar muscular
atrophy (SBMA); and six spinocerebellar ataxias (SCA 1, 2, 3, 6,
7, and 17).
The genetic basis of polyQ disorders is well established and
described, and despite important advances that have opened up the
possibility of generating genetic models of the disease, the
mechanisms that cause neuronal degeneration are still largely
unknown and there is currently no treatment available for these
disorders. Further, it is believed that the different polyQ may
share some mechanisms and pathways contributing to
neurodegeneration and disease progression.
The genetic basis of polyQ disorders is well established and
described, and despite important advances that have opened up the
possibility of generating genetic models of the disease, the
mechanisms that cause neuronal degeneration are still largely
unknown and there is currently no treatment available for these
disorders. Further, it is believed that the different polyQ may
share some mechanisms and pathways contributing to
neurodegeneration and disease progression.
