Cam always comes off as the quiet intelligent type in the classroom. I'm sure he makes up for his quietness in the classroom on the baseball field. He is a junior with plans to some day join the healthcare field as a PA. I'm excited to see where life takes him.
Introduction:
To this day, one of the most shocking things that I have ever been told is that one of my close friends was on the brink of death and had to be rushed to the emergency room. My friend experienced confusion, vomited, passed out, and ended up having zero brain function for a few minutes while they were in the hospital.
The cause of all these symptoms was called urea cycle disorder (UCD). Urea cycle disorder is a genetic disorder that is passed down from parents to offspring. This disorder affects a gene or genes that code for a specific enzyme or enzymes in the urea cycle. A healthy urea cycle turns protein into ammonia and excretes it from the body via urine. A person with UCD cannot rid the ammonia from their system and therefore it reaches toxic and sometimes fatal levels.
Figure 1: This infographic shows an overview of Urea Cycle Disorder. It goes through the transmission of the disease, symptoms, treatments, and comparing a healthy UC to an individual with UCD.
Treatment Overview:
There are many treatments already found for this disorder including dietary protein restrictions, oral and IV drugs, supplements, and liver transplantation. However, many more treatments are being tested. I believe that there are always ways to improve treatment and some of the new treatments could end up being very successful. The two main new treatments being tested that I want to talk about are gene replacement therapy and genome editing. I believe if there is a way that this problem can be fixed without restricting diet, taking drugs and supplements, or having to go through a transplantation surgery then these new treatments should be tested and perfected.
Gene Replacement Therapy:
Gene replacement therapy is a new treatment that, as of right now, is in clinical trial phase I/II. This procedure is performed by inserting a “healthy” gene into the persons genome by some sort of vehicle. Once within the patient’s body the gene offsets the function or malfunction of the disease-causing gene. However, this gene remains in the person’s genome. This is usually seen as a temporary fix, but by temporary it means that this change in the genome only lasts until the person has passed away. I believe that UCD would be a good disorder for the use of gene replacement therapy. The gene for this disorder is only expressed within the liver so that means gene replacement would only target cells of the liver and thus reduces the chance of this treatment negatively impacting the rest of the body. This might just be the next big thing for treating and correcting UCD.
Genome Editing:
Another up and coming treatment is genome editing. Genome editing for UCD is currently in preclinical trials and is the more potentially dangerous form of treatment. This is done by manually removing a part of the gene sequence and either replacing, revising, or removing the gene entirely. This can be more harmful than gene replacement therapy because a gene can potentially be lost, mutated to the wrong nucleotide, or replaced in the wrong position. With gene replacement therapy the only thing being done is adding in a gene that masks the function of the mutant gene. However, I believe UCD is a good candidate for this treatment. The geneticist’s can only focus on a small part of the affected individual’s genome since this gene is only expressed in the liver. Also, with the always-improving CRISPR tech, this editing will become more and more accurate over time reducing the chance of an accident that further damages the patient’s genome.
Conclusion:
Thankfully, my friend was saved from this disorder just in time, but now he is on a low protein diet. This is especially tough for someone like him who is always active and working out. It is also tough because he always loved foods that are high in protein, which are needed to help someone recover and build muscle while working out. If there are ways to let people live a normal life by editing their genome by therapy or by utilizing CRISPR then I am all for development and testing of these techniques. As long as they can be perfected with very little to no negative consequences, of course. These negative consequences can include a misplaced gene, a wrongly revised gene, or even a lost gene that can all become fatal or cause a worse mutation. Looking at this people with something like UCD may get turned away from these gene editing tools but these are getting more and more accurate and will soon be as close to 100% accurate as they can be. This means that people can rely on these treatments to help them get back to living a normal life and eating the foods that they love again without restricting anything or having to remember to take much needed medication every day. Hopefully, with the advancements of this technology nobody will have to go through the same emotions that I went through when I first heard about my friend.
Source Links:
Symptoms and Role of Genetics: https://www.ucdincommon.com/role-of-genetics-in-urea-cycle-disorder/urea-cycle-disorder-genetic-testing?msclkid=8b47fe79c4b01e9f0ad5a0246947ba0f&utm_source=bing&utm_medium=cpc&utm_campaign=Nonbranded%20-%20UCDinCommon%20-%20UCD&utm_term=urea%20cycle%20explained&utm_content=UCD%20-%20General%20-%20Phrase&gclid=CIT85YCP_ecCFdOzswodyLcN_g&gclsrc=ds
Gene Editing Explained: https://ghr.nlm.nih.gov/primer/genomicresearch/genomeediting
Gene Therapy Explained: https://ghr.nlm.nih.gov/primer/therapy/genetherapy
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