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Crystal cataracts: Human genetic cataract caused by protein crystallization
 

Summary: Crystal cataracts: Human genetic cataract caused
by protein crystallization
Ajay Pande*, Jayanti Pande
, Neer Asherie
, Aleksey Lomakin
, Olutayo Ogun
, Jonathan King*,
and George B. Benedek
Departments of *Biology and Physics, Center for Materials Science and Engineering and Materials Processing Center, Massachusetts Institute of
Technology, Cambridge, MA 02139-4307
Contributed by George B. Benedek, March 12, 2001
Several human genetic cataracts have been linked recently to point
mutations in the D crystallin gene. Here we provide a molecular
basis for lens opacity in two genetic cataracts and suggest that the
opacity occurs because of the spontaneous crystallization of the
mutant proteins. Such crystallization of endogenous proteins lead-
ing to pathology is an unusual event. Measurements of the
solubility curves of crystals of the Arg-58 to His and Arg-36 to Ser
mutants of D crystallin show that the mutations dramatically
lower the solubility of the protein. Furthermore, the crystal nucle-

  

Source: Asherie, Neer - Departments of Physics & Biology, Yeshiva University
Benedek, George B. - Department of Physics, Massachusetts Institute of Technology (MIT)

 

Collections: Biology and Medicine; Physics