angiogenin and Fatty-Liver

A K17I mutation in the ANG gene encoding angiogenin has been identified in a case that we previously published as ALS with neuronal intranuclear protein inclusions (Seilhean et al. in Acta Neuropathol 108:81-87, 2004). These inclusions were immunoreactive for smooth muscle alpha-actin but not for angiogenin. Moreover, they were not labeled by anti-TDP-43 antibodies, while numerous cytoplasmic inclusions immunoreactive for ubiquitin, p62 and TDP-43 were detected in both oligodendrocytes and neurons in various regions of the central nervous system. In addition, expression of smooth muscle alpha-actin was increased in the liver where severe steatosis was observed. This is the first neuropathological description of a case with an ANG mutation. Angiogenin is known to interact with actin. Like other proteins involved in ALS pathogenesis, such as senataxin, TDP-43 and FUS/TLS, it plays a role in RNA maturation.

Topics: Actins; Amyotrophic Lateral Sclerosis; Brain; DNA Mutational Analysis; DNA-Binding Proteins; Fatty Liver; Female; Humans; Immunohistochemistry; Inclusion Bodies; Liver; Middle Aged; Motor Neurons; Muscle, Skeletal; Mutation; Neurons; Oligodendroglia; Ribonuclease, Pancreatic; Spinal Cord