Wednesday, January 21, 2009JOHNSON CITY –Protecting the nucleus of each cell and all of its vital genetic information is the responsibility of a group of proteins called Lamins. While these proteins develop into strong structures that support the nucleus walls (nuclear lamina), they also serve a function in supporting the machinery of DNA replication and gene expression.
In that latter role, a researcher at East Tennessee State University’s James H. Quillen College of Medicine is studying the connection between Lamins and premature and possibly the normal aging process.
“One type of lamins, called Lamin A, is uniquely produced from a larger immature form known as prelamin A” said Dr. Antonio Rusinol, an assistant professor of Biochemistry and Molecular Biology who is studying this process.
In the cell, Rusinol says that prelamin A is normally present in almost undetectable levels, but it does accumulate when cells become quiescent, which is the state of the cells when they are not dividing. The unregulated accumulation of immature forms of Lamin A has also been connected to genetic diseases such as Hutchinson-Gilford Progeria Syndrome (HGPS), or progeria, which is a rare condition characterized by premature and accelerated aging, and restrictive dermopathy (RD), a neonatal disease defined by an extreme tightness of the skin that prevents healthy formation.
Life expectancy for HGPS patients is approximately 13 years, while RD is usually fatal around birth.
Outcomes of his work, Rusinol hopes, will increase the understanding of the mechanisms that relate prelamin A accumulation to cell quiescence while also shedding light on possible therapeutic approaches for patients with these diseases.
Rusinol’s research is being funded through a grant from the National Institutes of Health and ETSU’s Research Development Committee.