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J Biol Chem, Vol. 275, Issue 15, 11465-11469, April 14, 2000

Amyloid and Non-amyloid Forms of 5q31-linked Corneal Dystrophy Resulting from Kerato-epithelin Mutations at Arg-124 Are Associated with Abnormal Turnover of the Protein*

Elena KorvatskaDagger §, Hugues Henry§||, Yukihiko Mashima**, Masakazu Yamada**, Claude Bachmann||, Francis L. MunierDagger dagger , and Daniel F. SchorderetDagger

From the Dagger  Division of Medical Genetics, Lausanne University Hospital (CHUV), ch. des Falaises 1, CH-1011 Lausanne, Switzerland, the || Laboratory of Clinical Chemistry, Lausanne University Hospital (CHUV), CH-1011 Lausanne, Switzerland, the ** Department of Ophthalmology, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo, 160-8582, Japan and the dagger  Department of Ophthalmology, Jules Gonin Ophthalmic Hospital, CH-1004 Lausanne, Switzerland

Mutations in kerato-epithelin are responsible for a group of hereditary cornea-specific deposition diseases, 5q31-linked corneal dystrophies. These conditions are characterized by progressive accumulation of protein deposits of different ultrastructure. Herein, we studied the corneas with mutations at kerato-epithelin residue Arg-124 resulting in amyloid (R124C), non-amyloid (R124L), and a mixed pattern of deposition (R124H). We found that aggregated kerato-epithelin comprised all types of pathological deposits. Each mutation was associated with characteristic changes of protein turnover in corneal tissue. Amyloidogenesis in R124C corneas was accompanied by the accumulation of N-terminal kerato-epithelin fragments, whereby species of 44 kDa were the major constituents of amyloid fibrils. R124H corneas with prevailing non-amyloid inclusions showed accumulation of a new 66-kDa species altogether with the full-size 68-kDa form. Finally, in R124L cornea with non amyloid deposits, we found only the accumulation of the 68-kDa form. Two-dimensional gels revealed mutation-specific changes in the processing of the full-size protein in all affected corneas. It appears that substitutions at the same residue (Arg-124) result in cornea-specific deposition of kerato-epithelin via distinct aggregation pathways each involving altered turnover of the protein in corneal tissue.

* This work was supported by Grants 31-052940.97 (to D. F. S.) and 32-58439.99 (Marie Heim-Vögtlin Beiträge, to E. K.) from the Swiss National Science Foundation and from the Foundation of the 450th Anniversary of the University of Lausanne (to E. K.).The costs of publication of this article were defrayed in part by the payment of page charges. The article must therefore be hereby marked "advertisement" in accordance with 18 U.S.C. Section 1734 solely to indicate this fact.

§ Contributed equally to this work.

To whom correspondence should be addressed: Dept. of Molecular and Cell Biology, Stanley Hall SM03, University of California, Berkeley, Berkeley, CA 94720-3206. Tel.: 510-642-7684; Fax: 510-643-9290; E-mail: tulen@zebra.berkeley.edu or Korvatska{at}hotmail.com.

Copyright © 2000 by The American Society for Biochemistry and Molecular Biology, Inc.
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