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          Institute: MPI für Entwicklungsbiologie     Collection: Abteilung 2 - Biochemistry (E. Izaurralde)     Display Documents



  history
ID: 460591.0, MPI für Entwicklungsbiologie / Abteilung 2 - Biochemistry (E. Izaurralde)
Identification of novel Angiogenin (ANG) gene missense variants in German patients with amyotrophic lateral sclerosis
Authors:Fernandez-Santiago, R.; Hoenig, S.; Lichtner, P.; Sperfeld, A. D.; Sharma, M.; Berg, D.; Weichenrieder, O.; Illig, T.; Eger, K.; Meyer, T.; Anneser, J.; Münch, C.; Zierz, S.; Gasser, T.; Ludolph, A.
Date of Publication (YYYY-MM-DD):2009-08
Title of Journal:J Neurol
Volume:256
Issue / Number:8
Start Page:1337
End Page:1342
Review Status:not specified
Audience:Not Specified
Abstract / Description:Amyotrophic lateral sclerosis (ALS) is a fatal progressive neurodegenerative disease characterized by the selective death of motor neurons in the motor cortex, brain stem and spinal cord. Recently, missense variants in the angiogenin gene (ANG), an angiogenic factor expressed in ventral horn motor neurons that is up-regulated by hypoxia, have been found in ALS patients of Irish/Scottish, North American, Italian, French and Dutch descent. To investigate the role of ANG in the German population, we screened for mutations by sequencing the entire coding region of the ANG gene in a large sample of 581 German ALS cases and 616 sex- and age-matched healthy controls. We identified two heterozygous missense variants, F(-13)L and K54E, in two German sporadic ALS cases but not in controls. Both missense variants are novel and have not been previously found in ALS cases. Our results suggest that missense variants in the ANG gene play a role in ALS in the German population and provide further evidence to support the hypothesis that angiogenic factors up-regulated by hypoxia are involved in the pathophysiology of ALS.
Free Keywords:Amyotrophic Lateral Sclerosis/ethnology/*genetics; Anoxia/complications/genetics/metabolism; Central Nervous System/metabolism/physiopathology; Cohort Studies; DNA Mutational Analysis; European Continental Ancestry Group; Female; Genetic Markers/*genetics; Genetic Predisposition to Disease/*genetics; Genetic Testing; Genetic Variation/*genetics; Genotype; Germany/ethnology; Heterozygote; Humans; Male; Middle Aged; Mutation, Missense/*genetics; Oxidative Stress/genetics; Ribonuclease, Pancreatic/*genetics
External Publication Status:published
Document Type:Article
Communicated by:root
Affiliations:MPI für Entwicklungsbiologie
External Affiliations:%G eng
Identifiers:ISSN:1432-1459 (Electronic) 1432-1459 (Linking) %R 10.1... [ID No:1]
URL:http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=... [ID No:2]
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