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

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

Research output: Contribution to journalArticlepeer-review

56 Scopus citations

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.

Original languageEnglish
Pages (from-to)1337-1342
Number of pages6
JournalJournal of Neurology
Volume256
Issue number8
DOIs
StatePublished - Aug 2009
Externally publishedYes

Keywords

  • Amyotrophic lateral sclerosis (ALS)
  • Angiogenin
  • Missense variant

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