Title

Deficiency of the zinc finger protein ZPR1 causes neurodegeneration

UMMS Affiliation

Program in Molecular Medicine and Howard Hughes Medical Institute; Department of Cell Biology

Publication Date

5-2-2006

Document Type

Article

Subjects

Animals; Apoptosis; Axons; Carrier Proteins; Cell Differentiation; Cells, Cultured; Disease Progression; Mice; Mice, Transgenic; Microscopy, Electron, Transmission; Microtubules; Motor Neurons; Nerve Degeneration; Zinc Fingers

Disciplines

Life Sciences | Medicine and Health Sciences

Abstract

Mutations that cause reduced expression of the full-length Survival Motor Neurons (SMN) protein are a major cause of spinal muscular atrophy (SMA), a disease characterized by degeneration of the alpha-motor neurons in the anterior horn of the spinal cord. The severity of SMA may be influenced by the actions of modifier genes. One potential modifier gene is represented by ZPR1, which is down-regulated in patients with SMA and encodes a zinc finger protein that interacts with complexes formed by SMN. To test the functional significance of ZPR1 gene down-regulation, we examined a mouse model with targeted ablation of the Zpr1 gene. We report that ZPR1-deficient mice exhibit axonal pathology and neurodegeneration. These data identify ZPR1 deficiency as a contributing factor in neurodegenerative disorders.

Rights and Permissions

Citation: Proc Natl Acad Sci U S A. 2006 May 9;103(19):7471-5. Epub 2006 Apr 28. Link to article on publisher's site

DOI of Published Version

10.1073/pnas.0602057103

Related Resources

Link to Article in PubMed

Journal/Book/Conference Title

Proceedings of the National Academy of Sciences of the United States of America

PubMed ID

16648254