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Fernández-Santiago, R.* ; Hoenig, S.* ; Lichtner, P. ; Sperfeld, AD.* ; Sharma, M.* ; Berg, D.* ; Weichenrieder, O.* ; Illig, T. ; Eger, K.* ; Meyer, T.* ; Anneser, J.* ; Münch, C.* ; Zierz, S.* ; Gasser, T.* ; Ludolph, A.*

Identification of novel Angiogenin (ANG) gene missense variants in German patients with amyotrophic lateral sclerosis.

J. Neurol. 256, 1337-1342 (2009)
DOI PMC
Open Access Green as soon as Postprint is submitted to ZB.
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.
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Publication type Article: Journal article
Document type Scientific Article
Keywords Angiogenin; Missense variant; Amyotrophic lateral sclerosis (ALS); mutations; als; diagnosis; survival; criteria; disease; protein; form
Language
Publication Year 2009
HGF-reported in Year 2009
ISSN (print) / ISBN 0340-5354
e-ISSN 1432-1459
Journal Journal of Neurology
Quellenangaben Volume: 256, Issue: 8, Pages: 1337-1342 Article Number: , Supplement: ,
Publisher Springer
Reviewing status Peer reviewed
Institute(s) Institute of Human Genetics (IHG)
Institute of Epidemiology (EPI)
POF-Topic(s) 30501 - Systemic Analysis of Genetic and Environmental Factors that Impact Health
30503 - Chronic Diseases of the Lung and Allergies
Research field(s) Genetics and Epidemiology
PSP Element(s) G-500700-001
G-503900-003
DOI 10.1007/s00415-009-5124-4
Scopus ID 68449084458
PubMed ID 19363631
Erfassungsdatum 2009-09-03
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