Research News
Investigating the role of KLF6 in Keratoconus
Beatrice Yue PhD, Hiroshi Nakamura MD, and Joel Sugar MD along with other colleagues recently reported on their investigation into the role of an important gene called Kruppel-like factor (KLF6) in the development of keratoconus. Their findings were published in the February 2006 issue of Investigative Ophthalmology and Visual Science.
KLF6 is a gene that is expressed in virtually every type of cell in the human body. It regulates cell growth and differentiation. It does this by specifically regulating transcription, the process by which genetic material is transferred from DNA to RNA to protein. Malfunctions in transcription result in genetic modifications that can cause abnormal functioning of cells and, as a result, disease.
KLF6 has been found to be essential for maintaining the health of corneal epithelium, the layer of the cornea affected by keratoconus. In this disease, the cornea of the eye gradually changes shape, from round to a conical, bulged shape. Because the cornea is responsible for refracting most of the light into the eye, abnormal shape changes in the cornea severely impact vision.
In this study, the transcription in corneal epithelial cells was analyzed and the behavior and levels of KLF-6 was observed in normal and keratoconus corneas through a variety of scientific techniques. In the keratoconus corneal samples, increased expression of the transcription factor KLF6 was found. Critically, the increased expression of KLF6 was found to suppress the promoter activity of the alpha1-proteinase inhibitor gene, a naturally occurring protein important for preventing the breakdown of tissue. These findings suggest a possible cause of keratoconus.
-by Poornima Krishnan
Full citation:
Chiambaretta F, Nakamura H, De Graeve F, Sakai H, Marceau G, Maruyama Y, Rigal D, Dastugue B, Sugar J, Yue BY, Sapin V. Kruppel-like factor 6 (KLF6) affects the promoter activity of the alpha1-proteinase inhibitor gene. Invest Ophthalmol Vis Sci. 2006 Feb;47(2):582-90.
