March of Dimes funds Jennifer Gerton’s research on cohesinopathies

The March of Dimes Foundation has awarded Investigator Jennifer Gerton, PhD, a three-year grant to study Cornelia de Lange Syndrome (CdLS), a genetic disorder caused by mutations in the cohesin complex. It is present but not always diagnosed at birth, and associated with a wide range of developmental abnormalities.

Besides regulating the separation of duplicated chromosomes during cell division, cohesin interacts with chromosomes at many other regions to influence their function. For instance, it regulates the production of ribosomal RNA and the organization of the ribosome factory, which ultimately affects translation. Gerton hypothesizes that cohesin mutations, in affecting translation, ultimately contribute to changes in gene expression that drive cohesinopathies like CdLS.

Using zebrafish models and human CdLS cell lines, Gerton will examine both the mTOR pathway, key in regulating translation; and p53, a major cell cycle regulator. She has preliminary evidence for a pattern of p53 activation and mTOR inhibition in this disorder. She will also determine if the amino acid L-leucine ameliorates some of the effects seen with CdLS and ribosomopathies, another group of inherited disorders where translation is defective.

First established by Franklin D. Roosevelt to combat polio, the March of Dimes Foundation took on birth defects prevention in 1958, a mission that now encompasses every level of perinatal health.