Linked Life Data

21107856

Source:http://linkedlifedata.com/resource/pubmed/id/21107856

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
2011-1-19
pubmed:abstractText
Recently identified mutations in the genes encoding the neuronal nicotinic ACh receptor (nAChR) subunits in patients affected by sporadic amyotrophic lateral sclerosis (sALS) may represent a factor which enhances disease susceptibility, in particular in association with ambient causes such as cigarette smoking. In this work, we characterize the functional properties of nAChRs containing the ?4R349C subunit, the mutation most frequently encountered in sALS patients. The mutation was coexpressed with wild-type ?3 or ?4 subunits or with mutant ?4R487Q subunit, which has been detected in one patient together with ?4R349C mutation. None of the functional parameters examined showed differences between ?4?4 and ?4R487Q?4 nAChRs. By contrast, ?4R349C mutation, independent of the companion ? subunit, caused the reduction in potency of both ACh and nicotine, decreased the density of whole-cell current evoked by maximal transmitter concentrations, and altered the kinetics of ACh-evoked whole-cell currents. These data confirm that sALS-associated mutations in nicotinic subunits may markedly perturb cholinergic transmission in individuals bearing the mutations.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Feb
pubmed:issn
1432-2013
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
461
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
225-33
pubmed:meshHeading
pubmed:year
2011
pubmed:articleTitle
Mutant human ?4 subunit identified in amyotrophic lateral sclerosis patients impairs nicotinic receptor function.
pubmed:affiliation
Dipartimento di Fisiologia e Farmacologia, Universita' Sapienza, Piazzale Aldo Moro 5, 00185, Rome, Italy. claudia.moriconi@uniroma1.it
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't