BetaB2-crystallin mutations associated with cataract and glaucoma leads to
mitochondrial alterations in lens epithelial cells and retinal neurons.
Authors Dulle JE, Rübsam A, Garnai SJ, Pawar HS, Fort PE
Submitted By Patrice Fort on 4/3/2017
Status Published
Journal Experimental eye research
Year 2017
Date Published 2/1/2017
Volume : Pages 155 : 85 - 90
PubMed Reference 28131617
Abstract Crystallin proteins are the most prominent protein of the lens and have been
increasingly shown to play critical roles in other tissues, especially the
retina. Members of all 3 sub-families of crystallins, alpha-, beta- and
gamma-crystallins have been reported in the retina during diabetes, traumatic
injury and other retinal diseases. While their specific role in the retina is
still unclear and may vary, beta-crystallin proteins have been shown to play a
critical role in ganglion cell survival following trauma. We recently reported
the correlation between a gene conversion in the betaB2-crystallin gene and a
phenotype of familial congenital cataract. Interestingly, in half of the
patients, this phenotype was associated with glaucoma. Taken together, these
data suggested that the mutations we recently reported could have an impact on
the role of betaB2-crystallin in both lens epithelial cells and retinal neurons.
Consistent with this hypothesis, we show in the current study that the gene
conversion leading to an amino acid conversion lead to a loss of solubility and
a change of subcellular localization of betaB2-crystallin in both cell types.
While the overall observations were similar in both cell types, there were some
important nuances between them, suggesting different roles and regulation of
betaB2-crystallin in lens cells versus retinal neurons. The data reported in
this study strongly support a significant role of betaB2-crystallin in both
lenticular and retinal ocular tissues and warrant further analysis of its
regulation and its impact not only in cataract formation but also in retinal
neurodegenerative diseases.

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