Accumulation of TDP-43 and α-actin in an amyotrophic lateral sclerosis patient with the K17I ANG mutation

D Seilhean, C Cazeneuve, V Thuriès… - Acta …, 2009 - Springer
D Seilhean, C Cazeneuve, V Thuriès, O Russaouen, S Millecamps, F Salachas, V Meininger…
Acta neuropathologica, 2009Springer
Abstract 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 α-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 …
Abstract
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 α-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 α-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.
Springer