UDN Project

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Middlesex Community College *

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231

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Biology

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Dec 6, 2023

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pptx

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6

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Detectives of Undiagnosed Disease Project : Participant 209 Hailey Carlson
QUESTION 1 : What type of symptoms did your patient have? My patient has an autism spectrum disorder, cognitive impairment, facial feature differences, and low muscle tone caused by a change in the MRTFB gene. Other symptoms include : -Underdevelopment of eye sockets, cheekbones, and upper jaw -Skin fold of the upper eyelid -Downward slanting of eyes -Low set ears rotated backwards -Nose differences -Flat/low nasal bridge -Speech apraxia
QUESTION 2 : What genetic mutation was observed? What change occurred at the protein level? The gene that was mutated was MRTFB also known as MKL2. This gene acts as a “transcriptional coactivator of serum response factor (SRF). Required for skeletal myogenic differentiation” (Uniprot.org). In the case for patient 209, the protein that changed was Ala91Pro. Chromosome 16 was effected. The subcellular location is in the nucleus.
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QUESTION 3 : Which protein interactions with your protein of interest did you find to be most interesting and why? The MRTFB gene interacts with many proteins like BACH2, ARPC3, RHOA, and etc. The protein-protein interaction that I found to be most interesting was with TAGLN. Transgelin, TAGLN, is a protein that is involved in calcium interactions and contracting properties of the cell that may contribute to replicative aging. This was most interesting because my patients has problems with many parts of his bone structures in his face which calcium should help with.
QUESTION 4 : Theorize why your mutation might be causing presented symptoms in your patient? I believe that the mutation might be causing these presented symptoms because of the protein change that occurs due to the MRTFB gene mutation. If this protein change never occurred, this patient possibly would not have been dealing with this undiagnosed disease. Additionally, because it is located in the nucleus, there will be issues with the control of genetic information.
QUESTION 5 : What type of experiments would you want to run to test your theory? To test my theory I would perform a biochemical test. This test studies the amount or activity level of proteins or enzymes that are produced from genes. In this case we would be looking for the Ala91Pro. If there are high levels of the changed protein, it could mean that a MRTFB mutation is present. Since the gene, MRTFB, is used for the s keletal myogenic differentiation , if the protein is changed that could cause the presented symptoms.
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