Assay for Keratin Expression
Keratins play an important role in maintaining cellular integrity and structure. Over 30 highly homologous keratin genes have been found in the human genome. Mutations in or dysregulation of 20 of these genes are known to lead to various human keratin diseases, such as psoriasis and epidermolysis bullosa simplex (EBS). The present invention is a sensitive assay that can specifically and objectively quantify and differentiate the expression level of a panel of highly homologous keratin genes in human skin. This assay provides clinicians a tool to diagnose which keratin defect is responsible for the symptoms seen in the patient and can be used to validate response to therapy or to evaluate levels of dysregulation as a biological endpoint in clinical trials or clinical practice.
Mutations within the keratin genes can lead to a variety of human diseases that affect outer skin layer and other locations including tongue, mouth, hair and gastrointestinal tract. Genetic testing and immunohistochemistry are currently used for detecting defective keratin conditions; however, these techniques are inherently limited in certain situations. For example, genetic testing cannot detect all known mutations throughout the entire keratin gene, and immunohistochemistry is highly subjective and its diagnosis may be inconclusive because of the high degree of homology between different keratin proteins. The keratin assay provided by this invention is objective and highly specific and sensitive. It can be used for clinical evaluation of patients with common skin disorders prior to and during therapy to establish efficacy. It may also be used in clinical trials of skin diseases as a quantitative biological endpoint to both ascertain effectiveness of drug treatment and to determine dosing regimens.
Stage of Development
This technology is part of an ongoing research program available for further opportunities either to sponsor future work or to license for external development. The intellectual property status of this technology is currently under internal review.
*Leachman, SA et. al. �Clinical and Pathological Features of Pachyonychia Congenita: J Investig Dermatol Symp Proc 10: 3 :17, Oct 2005.
*Smith, F et. al. The Genetic Basis of Pachyonychia Congenita: J Investig Dermatol Symp Proc 10: 21 :30, Oct 2005.
*See also http://www.huntsmancancer.org/group/leachman/leachmanLab.jsp
Mary Schwartz, Leonard Milstone, Thanh Lan (Lana) Ngoc Pho, Frances Smith, Roger Kaspar, Robyn Hickerson, Sancy Leachman
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