[Molecular biology of polyglutamine diseases].
Polyglutamine diseases include at least 9 neurodegenerative disorders: Huntington's disease (HD), dentatorubral pallidoluysian atrophy (DRPLA), spinobulbar muscular atrophy (SBMA), and spinocerebellar ataxia (SCA) type: 1-3, 6-7 and 17, each caused by a CAG-trinucleotide repeat expansion in a different gene. The poly-CAG sequence is translated into a polyglutamine stretch in the respective proteins. This review discusses mutual molecular features of polyglutamine diseases. The formation of intranuclear inclusions, recruitment of physiological polyglutamine proteins as well as a potential role of molecular chaperones, capsases, and inhibition of histone acetyltransferases-depended transcription in cellular pathogenesis are considered.
Owecki
Michał
M
Katedra i Klinika Neurologii Akademii Medycznej im. K. Marcinkowskiego, Poznaniu.
Kozubski
Wojciech
W
D000818:Animals; D006801:Humans; D018832:Molecular Chaperones / Q000378:metabolism; D019636:Neurodegenerative Diseases / Q000235:genetics / Q000378:metabolism*; D010455:Peptides / Q000235:genetics*; D019680:Trinucleotide Repeat Expansion / Q000235:genetics*
D018832:Molecular Chaperones; D010455:Peptides; C097188:polyglutamine