PMID: 7581375Aug 1, 1995Paper

Expression of the Huntington's disease (IT15) protein product in HD patients

Human Molecular Genetics
G SchillingC A Ross

Abstract

Huntington's disease (HD) is an inherited, neurodegenerative disorder caused by expansion of a CAG repeat in the IT15 gene, leading to an expanded glutamine repeat in the HD protein. The mechanism by which the expanded repeat causes expression of the disease is not known, though there do not appear to be changes in the mRNA levels. We have conducted quantitative Western blot analyses of HD patients and controls. Expression of the IT15 protein is essentially equal in control and HD frontal cortex. In caudate from HD patients, IT15 protein is decreased in parallel with the decrease in a neuronal marker, suggesting that loss of IT15 protein is secondary to neuronal loss. In order to determine expression of the two alleles of the IT15 protein we used Western blots of 4% polyacrylamide gels. Both alleles of the IT15 protein were expressed at similar levels in HD lymphoblastoid cell lines and HD post-mortem hippocampus and cerebellum (regions relatively spared in HD), indicating that even very long CAG repeats can be translated into polyglutamine. In contrast, in cerebral cortex and caudate (regions severely affected in HD), in the longer expanded repeat cases the expanded allele of the IT15 protein was present at a significantly low...Continue Reading

Citations

Dec 10, 1997·Annals of Neurology·I Gourfinkel-AnE C Hirsch
Aug 1, 1997·Molecular and Chemical Neuropathology·W E KaufmannN A Lishaa
Mar 1, 1996·Brain Research. Molecular Brain Research·R L MargolisC A Ross
Dec 1, 1996·Current Opinion in Structural Biology·M F Perutz
May 14, 1996·Proceedings of the National Academy of Sciences of the United States of America·J BaoT M Dawson
Mar 1, 1997·Human Molecular Genetics·E E WankerH Lehrach
Jan 26, 2010·Human Molecular Genetics·Mahmoud A PouladiMichael R Hayden
Dec 6, 2008·Molecular Biology and Evolution·John G Gibbons, Antonis Rokas
Jan 14, 1999·Journal of Neurology, Neurosurgery, and Psychiatry·T ForoudP M Conneally
Jul 13, 2006·Proceedings of the National Academy of Sciences of the United States of America·Martin L DuennwaldSusan Lindquist
Feb 20, 2003·Proceedings of the National Academy of Sciences of the United States of America·S IuchiH Green
Jul 18, 2008·Handbook of Clinical Neurology·Frédéric Saudou, Sandrine Humbert
Sep 16, 2006·Molecular Aspects of Medicine·Brinda Ravikumar, David C Rubinsztein
Nov 7, 2016·Molecular Neurobiology·Zih-Ning Huang, Lu-Shiun Her
Jun 8, 2017·Brain Sciences·Ryoma Morigaki, Satoshi Goto
Sep 1, 2004·Brain Research. Molecular Brain Research·Ujendra Kumar
Jun 11, 2003·The Journal of Gene Medicine·Lis HasholtSven Asger Sørensen
Oct 24, 2007·The Journal of Comparative Neurology·Anton ReinerDaniel Goldowitz
Dec 31, 2005·Journal of Neurophysiology·Véronique M AndréMichael S Levine
Mar 27, 2012·The EMBO Journal·Veronica Costa, Luca Scorrano
Aug 9, 1996·The Journal of Biological Chemistry·M A KalchmanM R Hayden
Nov 15, 2017·Acta Neuropathologica·Isabelle St-AmourSébastien S Hébert
Dec 18, 2019·Scientific Reports·Hubert AviolatMarian DiFiglia
Jan 1, 2013·G3 : Genes - Genomes - Genetics·Martha H ElmoreAntonis Rokas
Jun 1, 1997·Journal of Inherited Metabolic Disease·A L JonesP S Harper
Jan 1, 1996·Human Mutation·R I Richards, G R Sutherland
Feb 1, 2006·Molecular and Cellular Neurosciences·Geraldine T GomezEileen M Denovan-Wright

❮ Previous
Next ❯

Related Concepts

Related Feeds

Basal Ganglia

Basal Ganglia are a group of subcortical nuclei in the brain associated with control of voluntary motor movements, procedural and habit learning, emotion, and cognition. Here is the latest research.