When mad AIOLOS drags IKAROS down: A novel pathogenic mechanism

(Tokyo Medical and Dental University) Researchers from TMDU have described a novel primary immunodeficiency due to a mutation in AIOLOS. This acts through a novel pathogenic mechanism termed " heterodimeric interference " , whereby when two different proteins bind together in a heterodimer, the mutant protein hijacks the function of the normal protein. In a mouse model, they were able to restore some of the lost functions by interfering with the mutated protein, suggesting a possible therapeutic approach to disorders of this nature.
Source: EurekAlert! - Medicine and Health - Category: International Medicine & Public Health Source Type: news