Preidt, R. Blood test looks at patients’ whole genome to spot rare … U.S. News & World Report (2021). Available at: https://www.usnews.com/news/health-news/articles/2021-11-08/blood-test-looks-at-patients-whole-genome-to-spot-rare-inherited-diseases. (Accessed: 11th November 2021)
In this article cited above, the main point is looking at genetic conditions known as mitochondrial disorders. These conditions are extremely rare, and the author of this article is looking into the process of genome sequencing blood samples to improve detection of these disorders. They are caused by mutations in mitochondrial DNA and nuclear DNA, either of these but never both. This then leads to the malfunction of the powerhouse of the cell. To start, we need to first understand what exactly mitochondria is. We know that mitochondria are a vital part in the energy of a cell, so with disorder in this structure the body will not have enough power to support itself the way a normally functioning body would. These mitochondria exist in almost every cell in the body, meaning this disorder can affect an array of organs and systems in a human body. A bit of background on mitochondrial disorders; they affect the cells in the body that pertain to making energy. In many cases the disorders will go into a vast number of bodily systems; the brain, heart, liver, nerves, eyes, and kidneys are the organs or tissues that are more so affected than most (Mitochondrial genetic disorders 2015).
Symptoms can become noticeable at any part of someone’s life, and most of the time these symptoms affect various organs at a time. These symptoms include developmental delays, disability when it comes to learning, diabetes, dementia, thyroid problems, vision/hearing problems, muscle function loss, and poor growth (Mitochondrial genetic disorders 2015). As stated earlier, mitochondrial disorders are mutations in nuclear DNA which means that it could be inherited from a parent who has it but there is also the possibility that the gene mutates into a completely different gene. Treatment wise, it is mostly treated by looking at a sample taken from muscle mass, but this test can be easily misinterpreted, which leads to misdiagnosis of the mitochondrial disorders because they are so rare. Just from looking at the mutations and inheritance, it can be said that genetics is extremely relevant to this article as well as this topic in general.
To summarize the article in question, we should begin to understand that the mitochondrial disorders are very commonly inherited but are difficult to diagnose. In the study conducted to go into depth about these disorders, around 345 people with probable mitochondrial disorders were tested. The test included a singular blood test and with studying the whole genome sequencing the researchers were able to gain a probable diagnosis for 31% of the attendees (Preidt, 2021l). Diagnosis of these disorders is crucial seeing as in many cases they can take place next to a multitude of other illnesses. This is because they infect various organs, and with that broad range of scope there is difficulty in narrowing it down to a singular disorder confidently. Another deciding factor on this blood test listed in the article is how accessible the testing is. It’s as simple as going into the doctor and getting blood work done, there’s no need to travel very far to get the test done (Preidt, 2021l ). Ultimately this information from the press is valid and with this statement there is a peer reviewed scientific article backing it. I investigated the National Center for Advancing Translational Sciences and took an article that backed up all the information in the news article cited above.
References
Mitochondrial genetic disorders. Genetic and Rare Diseases Information Center (2015). Available at: https://rarediseases.info.nih.gov/diseases/7048/mitochondrial-genetic-disorders. (Accessed: 11th November 2021)
Preidt, R. Blood test looks at patients’ whole genome to spot rare … U.S. News & World Report (2021). Available at: https://www.usnews.com/news/health-news/articles/2021-11-08/blood-test-looks-at-patients-whole-genome-to-spot-rare-inherited-diseases. (Accessed: 11th November 2021)