Shriners Research Center, Portland OR

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6th Pan Pacific Connective Tissue Symposium | Skeletal Growth Workshop

Sakai Laboratory

Lynn Sakai , PhD


Senior Investigator
Portland Shriners Research Center
Professor of Biochemistry & Molecular Biology,
Oregon Health & Science University

"Fibrillins in Health and Disease "

The extracellular matrix (ECM) is inhabited by many different families of macromolecules that are composed of multiple molecules or domains. Determining the structure and function of those complex macromolecules is especially challenging. ECM macromolecules can form fibrous structures that provide physical properties to the extracellular environment and can interact specifically with other proteins (growth factors, for example). They can also interact with cells to directly influence cell behavior, gene expression, tissue organization, and growth of the organism. Mutations in the genes for ECM macromolecules can result in human diseases manifested by abnormal growth and weakness of the relevant connective tissue.

The structure and function of the fibrillin family of macromolecules have been recently demonstrated by this lab. The fibrillins are microfibrillar components of many connective tissues. Heritable disorders of connective tissue, including Marfan syndrome, have been traced to mutations in genes encoding fibrillins. The specific biological mechanisms that cause these diseases are currently being investigated.

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