Transmissible protein aggregation in myodegenerative diseases

2016 Pilot Project Read More

Investigators

Principal investigator: Conrad Weihl (WUSTL Neurology)
Collaborator: Jan Bieschke (WUSTL Biomedical Engineering)

Description

Autosomal dominantly inherited mutations in the gene DES, which encodes the
desmin protein, lead to devastating protein aggregate
myopathies with premature death. Our proposal adopts a novel pathomechanistic
paradigm that has not been investigated in skeletal muscle diseases associated with
protein accumulation. Specifically, we will investigate the role of templated protein
conversion in skeletal muscle. In addition, we will explore whether prion like protein
transmission can occur from myofiber to myofiber. Finally, one mechanism for the
phenotypic pleiotropy may relate to distinct protein aggregate conformations similar to
those seen in neurodegenerative disorders. These studies will enable novel therapeutic
interventions and diagnostic testing that has not been considered in these rare
degenerative myopathies.

Investigators

Pilot project teams include Hope Center faculty members and others. For more about Hope Center faculty on this team, click below.

Conrad Weihl

Jan Bieschke

Support

This pilot project is made possible by the Danforth Foundation Challenge Endowment, and The Hope Center Program on Protein Aggregation and Neurodegeneration (HPAN).

Danforth Challenge Endowment

HPAN