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Identification of novel Angiogenin (ANG) gene missense variants in German patients with amyotrophic lateral sclerosis |
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| Authors: | Rubén Fernández-Santiago Sabine Hoenig Peter Lichtner Anne-Dorte Sperfeld Manu Sharma Daniela Berg Oliver Weichenrieder Thomas Illig Katharina Eger Thomas Meyer Johanna Anneser Christoph Münch Stephan Zierz Thomas Gasser Albert Ludolph |
| Institution: | 1. Department for Neurodegenerative Disorders, Hertie Institute for Clinical Brain Research, Eberhard-Karls University, Tuebingen, Germany 2. Graduate School of Cellular and Molecular Neuroscience, International Max Planck Research School, Graduate Training Center of Neuroscience, Eberhard-Karls University, Tuebingen, Germany 3. Department of Neurology, University Hospital of Ulm, Oberer Eselsberg 45, 89081, Ulm, Germany 4. Institute for Human Genetics, GSF-National Research Centre for Environment and Health, Neuherberg, Germany 5. Department of Biochemistry, Max Plank Institute for Developmental Biology, Tuebingen, Germany 6. Institute for Epidemiology, GSF-National Research Centre for Environment and Health, Neuherberg, Germany 7. Department of Neurology, University Hospital Halle-Wittenberg, Halle, Germany 8. Department of Neurology, Charité Humbolt-University Hospital Berlin, Berlin, Germany 9. Department of Neurology, Grosshadern University Hospital, Ludwig-Maximilians University, Munich, Germany |
| Abstract: | 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. Electronic supplementary material The online version of this article (doi:) contains supplementary material, which is available to authorized users. |
| Keywords: | Angiogenin Missense variant Amyotrophic lateral sclerosis (ALS) |
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