An Introduction: Investigating Disease-Causing Mutations in ROMK

Hi everyone! My name is Erin McChesney and I’m a current junior pursing a major in Biological sciences with a double minor in Chemistry and Administration of Justice. This fall semester, I will be given the opportunity to study various human disease-causing mutations of the renal outer medullary potassium (ROMK) channel protein, which is located in the kidney. I will be conducting my experiments in Dr. Jeffrey Brodsky’s lab alongside my research mentor, Katie Nguyen, who is a graduate student in the Brodsky lab. To further elaborate on the project, I will be experimentally assessing the functional impact of 16 different human missense mutations of ROMK in a model organism, yeast (Saccharomyces cerevisiae). Specifically, I will focus on 11 known mutations that cause Bartter’s syndrome. These were identified in the NIH’s TOPMed site, a whole-genome sequencing project of ~149k participants with heart, lung and blood disorders. Bartter’s disease is a group of inherited kidney disorders characterized by an imbalance in potassium and other electrolytes and a number of life-altering symptoms. Individuals with Bartter syndrome often suffer from life-altering symptoms, including muscle weakness, chronic fatigue, and excessive thirst and urination. Alarmingly, there is no cure for this debilitating disease. One particular form of this disease, Bartter syndrome type II, is caused by mutations in ROMK that lead to the premature degradation of this essential protein. Moreover, ROMK also plays a role in hypertension. Most notably, individuals with only one defective copy are protected against hypertension. Now more than ever, with the novel Covid-19 virus threatening the lives of individuals with hypertension, it is of even greater importance that we better understand ROMK function. To this end, my research will not only elucidate the functional outcome of natural human variants in ROMK, but also lead to a better understanding of ROMK function. Ultimately, I hope to bring the world one step closer to uncovering the complex genetics behind life-threatening conditions such as Bartter syndrome type II and hypertension. 

In terms of my professional goals, I plan to incorporate my passion for science in all of my future academic endeavors, research opportunities, and career. With this, my ambition is to hopefully attend medical school one day. As a new scientist and aspiring doctor, I am tremendously thankful that the CURF fellowship has granted me with the opportunity to share my science with others as I progress through my research project. I am also eager to learn about my classmate’s research projects. In whole, this fellowship opportunity will enhance my passions for inquiry and discovery while simultaneously allowing me to gain more insight regarding fascinating current events in the research community at Pitt. 

-Major: Biological Sciences

-Minors: Chemistry and Administration of Justice

-Something unique about myself: (outside of my research and other pre-health extracurricular activities) I really enjoy drawing and painting

Leave a Reply

Fill in your details below or click an icon to log in:

WordPress.com Logo

You are commenting using your WordPress.com account. Log Out /  Change )

Google photo

You are commenting using your Google account. Log Out /  Change )

Twitter picture

You are commenting using your Twitter account. Log Out /  Change )

Facebook photo

You are commenting using your Facebook account. Log Out /  Change )

Connecting to %s