NDLI: Facteurs de sévérité et rôle des protéines à domaine polyalanine dans la dystrophie musculaire oculopharyngée

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Facteurs de sévérité et rôle des protéines à domaine polyalanine dans la dystrophie musculaire oculopharyngée

Content Provider	Semantic Scholar
Author	Alexander, Christine
Copyright Year	2008
Abstract	Problem: Oculopharyngeal muscular dystrophy (OPMD) is an adult-onset disease with a worldwide distribution. It has a high prevalence of 1: 1 000 in Quebec. OPMD usually presents in the fifth de cade with progressive eyelid drooping and swallowing difficulty. A more severe phenotype is associated with a proximallimb weakness. Dominant OPMD is caused by short (GCN) expansions in the polyadenylate-binding prote in nuclear 1 gene (PABPNI). The mutations cause the lengthening of the polyalanine domain at the Nterminus of P ABPNI. This leads to the accumulation of PABPNI in intranuclear inclusions (INIs) of skeletal muscles. Objectives: This M.Sc. project aimed to 1) determine if the second copy of the P ABPNI gene has an influence on the severity of OPMD, 2) determine the type of genetic inheritance of the severe phenotype of OPMD, 3) determine if other proteins with polyalanine domains have a tendency to aggregate and 4) determine if PABPNI recruits other proteins with polyalaine domains in the INIs. Methods: 1) Haplotypes and pedigrees of families with severe cases were analyzed to determine the genetic aspect of severity. 2) Polyalanine containing proteins were transfected in HeLa cells with or without PABPNI in order to determine the role of polyalanine do mains in OPMD. Conclusions: 1) The trans copy of the PABPNI gene does not influence severity. 2) Severity in our cohort seems to be autosomal dominant. 3) Proteins with polyalanine domains have a tendancy to aggregate. 4) PABPNI does not seem to recruit other proteins with polyalanine domaines in the INIs.
File Format	PDF HTM / HTML
Alternate Webpage(s)	https://papyrus.bib.umontreal.ca/xmlui/bitstream/handle/1866/7623/Alexander_Christine_2008_memoire.pdf;jsessionid=08D07AD8526F6012C4B26378AF826C4E?sequence=1
Language	English
Access Restriction	Open
Content Type	Text
Resource Type	Article

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