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RESEARCH PRODUCT
A novel Angiogenin gene mutation in a sporadic patient with amyotrophic lateral sclerosis from southern Italy
G. TedeschiF. BonoMaria MugliaFrancesca Luisa ConfortiFrancesca CondinoA. L. GabrieleCarmine UngaroIsabella Laura SimoneAlessandro TessitoreM. R. MonsurròAlessandra PatitucciRosalucia MazzeiV. La BellaAngela MagarielloAldo QuattronePaola ValentinoG. MajoranaTeresa Sprovierisubject
AdultGenetic MarkersMaleSignal peptideAngiogenin geneAngiogeninGenetic LinkageDNA Mutational AnalysisSingle-nucleotide polymorphismGene mutationBiologyPolymorphism Single NucleotidemedicineHumansSNPGenetic Predisposition to DiseaseGenetic TestingAlleleAmyotrophic lateral sclerosisGeneGenetics (clinical)AgedChromosomes Human Pair 14Motor NeuronsGeneticsAmyotrophic Lateral SclerosisChromosome MappingRibonuclease PancreaticMiddle Agedmedicine.diseaseAssociation studyAmino Acid SubstitutionItalyNeurologyCytoprotectionMutationNerve DegenerationPediatrics Perinatology and Child Healthcardiovascular systemCancer researchFemaleNeurology (clinical)ALShormones hormone substitutes and hormone antagonistsdescription
Mutations in the Angiogenin gene (ANG) linked to 14q11.2 have been recently discovered to be associated with Amyotrophic Lateral Sclerosis (ALS) in Irish and Scottish populations. In our study we investigated the role of ANG gene in ALS patients from southern Italy. We found a novel mutation in the signal peptide of the ANG gene in a sporadic patient with ALS (SALS). The molecular analysis of the ANG gene also demonstrated an allelic association with the rs11701 single nucleotide polymorphism (SNP) in familial ALS (FALS) but not in SALS patients. Our finding supports the evidence that the ANG gene is involved in ALS.
| year | journal | country | edition | language |
|---|---|---|---|---|
| 2007-06-05 | Neuromuscular Disorders |