Have you ever wondered how mutations in our DNA can manifest into a disease? I was able to study this for a novel mutant in a diseased patient.
Hi, my name is Nayem Haque, and I am a senior Biological Sciences major at the University at Buffalo. For the past two years, I have worked as an undergraduate researcher in the Duffey and Parker lab. The Parker lab studies SLC4 membrane proteins which are involved in acid/base balance of solutes in blood. This past year, I worked on an individual project where I studied the characteristics of a mutant membrane protein and how it can lead to a disease called proximal renal tubular acidosis. The region of the protein that is mutated was reported in a patient and has not yet been characterized. It is important to understand both the characteristics of the mutant and the overall importance of that region as it relates to the activity of the protein. If we can first understand the problem that is causing the disease, we can start to figure out ways to treat the patient.
Blood pH is an important physiochemical parameter that must be maintained within a narrow range of 7.35 to 7.45. Bicarbonate plays a key role in sustaining the blood pH buffer by neutralizing our daily acid load. Virtually all the bicarbonate in our body is generated and recycled in the kidney by the proximal tubule. NBCe1-A is a sodium bicarbonate cotransporter in the proximal tubule that is directly involved in bicarbonate reabsorption. A research article published in 2018 reported a patient with ocular abnormalities, short stature, and intellectual disability. The patient was diagnosed with proximal renal tubular acidosis and whole exome sequencing revealed a point mutation in the SLC4A4 gene. This gene encodes NBCe1-A and the mutation caused alanine at residue 744 to become threonine. Using two-electrode voltage clamp, biotinylation, and immunocytochemistry, I will characterize the intrinsic activity and surface expression of this novel mutant.
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