Angiogenin loss-of-function mutations in amyotrophic lateral sclerosis.

ABSTRACT:

Objective

Heterozygous missense mutations in the coding region of angiogenin (ANG), an angiogenic ribonuclease, have been reported in amyotrophic lateral sclerosis (ALS) patients. However, the role of ANG in motor neuron physiology and the functional consequences of these mutations are unknown. We searched for new mutations and sought to define the functional consequences of these mutations.

Methods

We sequenced the coding region of ANG in an independent cohort of North American ALS patients. Identified ANG mutations were then characterized using functional assays of angiogenesis, ribonucleolysis, and nuclear translocation. We also examined expression of ANG in normal human fetal and adult spinal cords.

Results

We identified four mutations in the coding region of ANG

SUBMITTER: Wu D 

PROVIDER: S-EPMC2776820 | biostudies-literature | 2007 Dec

REPOSITORIES: biostudies-literature