Congo red, doxycycline, and HSP70 overexpression reduce aggregate formation and cell death in cell models of oculopharyngeal muscular dystrophy

• Published in: Journal of medical genetics Vol. 41; no. 1; pp. 47 - 51
• Main Authors: Bao, Y P, Sarkar, S, Uyama, E, Rubinsztein, D C
• Format: Journal Article
• Language: English
• Published: England BMJ Publishing Group Ltd 01.01.2004; BMJ Publishing Group LTD; BMJ Group
• Subjects: 6-diamidino-2-phenylindole; Adult; Aggregates; Animals; Apoptosis; Blood-brain barrier; Cell culture; Cell Death - drug effects; Cell Death - genetics; Cell Line; Cercopithecus aethiops; chaperone; Congo Red - chemistry; COS Cells - chemistry; COS Cells - metabolism; Cytotoxicity; DAPI; DMEM; Dox; Doxycycline - pharmacology; doxycycline hydrochloride; Dulbecco’s modified Eagle’s medium; EGFP; enhanced green fluorescent protein; Female; GFP; green fluorescent protein; heat shock protein; HSP; HSP70 Heat-Shock Proteins - biosynthesis; HSP70 Heat-Shock Proteins - immunology; Humans; Huntingtons disease; Huntington’s disease; Immunohistochemistry; Inclusion Bodies - drug effects; Inclusion Bodies - metabolism; Letter to JMG; Male; Middle Aged; Muscular dystrophy; Muscular Dystrophy, Oculopharyngeal - genetics; Muscular Dystrophy, Oculopharyngeal - metabolism; Mutation; oculopharyngeal muscular dystrophy; oligomerisation domain; OPMD; PABP2; Permeability; Pharyngeal Muscles - chemistry; Pharyngeal Muscles - metabolism; Poly(A)-Binding Protein II - analysis; Poly(A)-Binding Protein II - genetics; Poly(A)-Binding Protein II - immunology; polyadenine binding protein 2; polyalanine; polyglutamine; polyQ; Proteins; Studies
• ISSN: 0022-2593; 1468-6244; 1468-6244
• DOI: 10.1136/jmg.2003.014548

In some rare cases, insertion mutations such as (GCG)6GCA(GCG)2, (GCG)6GCA(GCG)3 and (GCG)6(GCA)3(GCG)2 are seen. 5, 6 In PABP2, (GCG)6 codes for the first six alanines in a homopolymeric stretch of 10 alanines. [...]disease is associated with expansions of 12 or more uninterrupted alanines in this nuclear protein. Since it may be possible to treat these diseases with compounds that reduce aggregate formation, we have been testing a number of anti-amyloid compounds in cell based models of OPMD (where no animal models have been published).