Mouse cell studies show that correcting DNA disorganization could aid diagnosis and treatment of rare inherited diseases


In a study with lab-grown mouse cells, researchers say they have found that a protein that helps form a structural network under the surface of the cell’s ‘command center’ — its nucleus — is key to ensuring that DNA inside it remains orderly.

«The impact of these findings could extend beyond the known laminopathic diseases, since it appears that lamin C is important for genome organization generally. We just don’t know at this point how lamin C is behaving in other diseases with dysregulation of the genome,» says Karen Reddy, Ph.D., assistant professor of biological chemistry at the Johns Hopkins University School of Medicine.

She continues, «many people are familiar with the idea that gene mutations — or errors in the genetic code — cause inherited diseases. However, genes that are highly disorganized could be as impactful as mutations in causing disease.»

Reddy notes that genetic tests generally do not consider the mechanics of how DNA is organized, which may be an important foundation to understanding genetic diseases.

Reddy and her research team published results of their study published Nov. 14 in Genome Biology.

Each human cell’s nucleus packs about 6 feet of tightly coiled DNA that holds the genetic instructions for every structure and function in the body. To keep the cell working, these threads of DNA must be organized into useable parts. The lamin proteins, which attach to the surface of the nucleus, do that by grabbing onto segments of the DNA, keeping them separate and tidy.


Story Source:
Materials provided by Johns Hopkins Medicine. Note: Content may be edited for style and length.


Добавить комментарий

Ваш адрес email не будет опубликован. Обязательные поля помечены *