Proteomic Analysis of Ichthyosis: LI/CIE Focus | Foundation for Ichthyosis (FIRST)

Bob Rice, PhD,
University of California, Davis,CA

Dr. Bob Rice

A frequent problem in diagnosis and treatment of the ichthyoses is to understand the molecular basis for the severity of the disease. Patients with the same genetic diagnosis, for example, may suffer a range of severities. This project investigates whether variations in the proteins expressed in the epidermis can help explain the variation in severity. To determine which proteins are present, epidermal scale is digested with a protease that produces specific protein fragments that are then analyzed by mass spectrometry. Preliminary results indicate that more than 50 proteins can be identified in this way and that samples from several ichthyosis patients show deficiencies in certain proteins. Building on this information, the present work will examine more samples and look for characteristic deficiencies. It will also seek more quantitative information on variations in levels of targeted proteins known or suspected of contributing to differences in severity. This information may also assist in monitoring or designing therapies.

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Proteomic Analysis of Ichthyosis: LI/CIE Focus (2008)