Structural and functional studies of D109A human αB-crystallin contributing to the development of cataract and cardiomyopathy diseases.

ABSTRACT: αB-crystallin (heat shock protein β5/HSPB5) is a member of the family of small heat shock proteins that is expressed in various organs of the human body including eye lenses and muscles. Therefore, mutations in the gene of this protein (CRYAB) might have many pathological consequences. A new mutation has recently been discovered in the α-crystallin domain of this chaperone protein which replaces aspartate 109 with alanine (D109A). This mutation can cause myofibrillar myopathy (MFM), cataracts, and cardiomyopathy. In the current study, several spectroscopic and microscopic analyses, as well as gel electrophoresis assessment were applied to elucidate the pathogenic contribution of human αB-crystallin bearing D109A mutation in development of eye lens cataract and myopathies. The protein oligo

SUBMITTER: Hafizi M 

PROVIDER: S-EPMC8629256 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature