By Loret Haas-Hanser
Science as a discipline is an integral part to learning about the world around us. Formality aside, science is beautiful. There are discoveries and advancements being made every day on a global scale that push humanity further towards a greater understanding of the earth and its inhabitants. In 2018, there were numerous incredible discoveries to reflect on. One of the fastest growing fields in science is epigenetics, which highlights changes in gene expression rather than alterations in genetic code. Epigenetics has increased in relevance in recent years due to modern technological advances. In the past year, there have been incredible breakthroughs in epigenetics regarding genetic links to diseases. The remainder of this article will highlight three major findings established by the epigenetics field in 2018.
Sickle-cell anemia
Sickle-cell anemia is a disease that causes degradation of red blood cells. Although sickle-cell anemia is a rare condition, it’s chronic and cannot be fully cured. There is treatment for this condition, but these treatments (medications, bone-marrow transplant and blood transfusion) are not permanent fixes and have extremely harsh side effects. One of the variables that makes epigenetics such an extraordinary field is the fact that it has the potential to determine the source of diseases. If the source of a disease is discovered, it is possible to target that source, and reverse the impact it has on the human genome, and that is exactly the detection researchers Daniel Shriner and Charles Rotimi have found.
Sickle-cell anemia can be detected through five certain cellular variations that cause an addition or absence of a restricted site necessary for the processing of red blood cells. By sequencing these five variational mutations and cross listing them with genomic data, researchers found 156 carriers in a subject group of 1000 individuals selected from the African Genome Variation Project. By doing so, analysis concluded that at a single point in time during the data collection period, there was a mutation shift. The original sickle-cell DNA variants came from Kenya, Uganda and South Africa over 7,300 years ago. Now that specific variations are detected and scientists are aware where they come from and how they are inherited, even more progress can be made to decrease those suffering from the disease.
Alzheimer’s disease
Every year in the United States, three million people are diagnosed with Alzheimer’s disease. Alzheimer’s is a condition that impairs cognitive function and decreases memory due to cell death and degeneration. In April of this year, researchers were able to reverse damage in Alzheimer’s patients by changing specific protein structure. A protein referred to as E4 is a variant of the gene APO that provides risk factors for Alzheimer’s disease. When examined in a lab setting, APOE E4 expressed high levels of GABAergic neuron degeneration.
GABA is a neurotransmitter that assists with communication and sending signals between brain cells. Not only did this uncover an important correlation between a specific neurotransmitter and Alzheimer’s, but it also gave researchers the ability to further manipulate this interaction. By converting the APOE4 protein variant to APOE E3, a similar protein with a slightly different genetic sequence, specific mutagenic errors were found in APOE E4 that can be reversed in Alzheimer’s patients. Subsequently, this could undo neurotransmitter-induced damage, which could aid memory restoration- thereby reversing damage caused by Alzheimer's disease.
Cancer
Lastly, biomedical experimentation has put an incredible focus on cancer research in the modern scientific climate, which is absolutely justifiable. Cancer comes in different types and forms, and it kills over half a million people per year in the United States alone. There are drugs and treatments available, though said treatments are miserable. Finding a cure for cancer and experimenting with treatments that do not have side effects as awful as widespread medications such as radiation or chemotherapy is a main backbone of epigenetics research. By implementing the use of genetics, scientists are researching cancer predispositions, specific DNA sequences that code for cancer and how inheritance plays a role in developing the disease. Through a combination of these mechanisms, two major conclusions have been determined in 2018.
Starting at the beginning of the year, researchers initiated a blood test that, theoretically, will detect eight common forms of cancer. Their goal is to have the blood test purchasable at pharmacies for ~$500. With a blood test that can detect cancer, it would enable people to speed up the diagnostic process in order to receive treatment for the disease at an early stage. The blood test essentially screens the blood and detects cancer variants and mutagenic properties of cells by relying on a genetic database. Researchers at Johns Hopkins Sidney Kimmel Cancer Center took a pool of 1,005 cancer patients and had them take the blood test. The blood test correctly detected signs of cancer in over 70% of subjects.
Science as a discipline is constantly growing and evolving. Although there are many diseases and ailments that do not have specific treatment, there is constant research occuring in hopes to discover the secrets that the human body possesses. With modern education and technology, science is expanding faster than ever. The future holds infinite possibilities.
References:
Shriner, Daniel, and Charles N. Rotimi. "Whole-Genome-Sequence-Based Haplotypes Reveal Single Origin of the Sickle Allele during the Holocene Wet Phase." The American Journal of Human Genetics 102.4 (2018): 547-556.
Wang, Chengzhong, et al. "Gain of toxic apolipoprotein E4 effects in human iPSC-derived neurons is ameliorated by a small-molecule structure corrector." Nature medicine 24.5 (2018): 647.
Harris, Richard. “Scientists Edge Closer To A Blood Test To Detect Cancers.” NPR, NPR, 18 Jan. 2018, www.npr.org/sections/health-shots/2018/01/18/578620342/scientists-edge-closer-to-a-blood-test-to-detect-cancers.