Understanding Genetic Disorders and Finding Better Treatment Through Research
Human genetic disorders arise from mutations in DNA sequences. Due to their origin in DNA, which is found in all body cells, it is not plausible to cure most of the disorders completely, but there are treatments to manage them and live a more normal life. However, genetic disorders continue to affect millions of people worldwide and even cause death. The most common disorders include Fragile X Syndrome (FXS) and breast cancer. Learning about these two disorders can give people a better understanding of how genetic disorders work and how they are treated.
Figure 1- Comparison of normal FMR1 gene sequence to a fully mutated FMR1 gene Source: Garber, Kathryn B., Jeannie Visootsak, and Stephen Warren T. “Fragile X Syndrome.” Nature.com. Nature Publishing Group, 9 Apr. 2008. Web. 09 Sept. 2016.
FXS is an inherited X-linked disorder that is most known for causing mental retardation. It is a result of a mutation in a specific gene called FMR1 that codes for a protein that regulates dendrites (Garber 2008). As shown in Figure 1, mutations occur when there are too many repeats of CGG. The mutated gene causes over-synthesis of these proteins and reduces the strengths of synapses. There are many symptoms of FXS including learning disabilities, mental retardation, and attributes of autism. Males with FXS have more cognitive problems and females with FXS have more emotional problems (Garber 2008). Emotional problems range from mood disorders and social anxiety to impulsiveness and hyperactivity (Garber 2008). Current treatments mostly deal with managing symptoms of FXS through therapy and medication, but research is underway to treat FXS at the molecular level. Since the gene that causes FXS was identified, it is possible to learn more about the gene and its role in the body to find a treatment that targets FXS directly. The protein FMRP that is coded by FMR1 has other roles, including one in the development of synapses, that need to be studied more to understand the gene better (Bassell 2008). Knowing the mechanisms behind the processes the protein is involved in can lead to treatment not only for FXS, but for similar disorders.
FXS is an inherited X-linked disorder that is most known for causing mental retardation. It is a result of a mutation in a specific gene called FMR1 that codes for a protein that regulates dendrites (Garber 2008). As shown in Figure 1, mutations occur when there are too many repeats of CGG. The mutated gene causes over-synthesis of these proteins and reduces the strengths of synapses. There are many symptoms of FXS including learning disabilities, mental retardation, and attributes of autism. Males with FXS have more cognitive problems and females with FXS have more emotional problems (Garber 2008). Emotional problems range from mood disorders and social anxiety to impulsiveness and hyperactivity (Garber 2008). Current treatments mostly deal with managing symptoms of FXS through therapy and medication, but research is underway to treat FXS at the molecular level. Since the gene that causes FXS was identified, it is possible to learn more about the gene and its role in the body to find a treatment that targets FXS directly. The protein FMRP that is coded by FMR1 has other roles, including one in the development of synapses, that need to be studied more to understand the gene better (Bassell 2008). Knowing the mechanisms behind the processes the protein is involved in can lead to treatment not only for FXS, but for similar disorders.
Breast cancer is one of the most common cancers in the United States. It is the second leading cause of death by cancer. As of 2013, there was a 12.3% chance that a woman in the United States would be diagnosed with breast cancer (DeSantis 2013). It is cancer caused by a mutation in breast cells that makes breast cells grow out of control. Fortunately, between 1990 and 2010, there was a 34% decrease in the breast cancer death rate (DeSantis 2013). Advancements in treatment and early detection of breast cancer due to increased screening and awareness have helped immensely. Chemotherapy is one popular treatment, but at the cost of great emotional and physical distress (Pandey 2006). Patients have reported greater anxiety, depression, and nausea, and lower self-esteem after beginning chemotherapy (Pandey 2006). Some researchers are researching whether chemotherapy is necessary for breast cancer treatment to help alleviate the pain that patients go through. Surgery to remove breast cancer tumors is another option that patients have. There are patients who undergo surgery who have to live with chronic pain (Poleshuck 2006). Breast cancer treatments are getting better, but patients continue to endure psychological trauma and physical pain. More research is needed to improve treatments for breast cancer patients.
Advancements in science have helped scientists and medical professionals understand genetic disorders and find treatment options for them. Fragile X Syndrome and breast cancer two common disorders that can be managed due to these advancements. However, more research can help people understand these disorders better and lead to better treatments. In the future, perhaps people with genetic disorders can lead normal and healthy lives.
References
Bassell GJ, Stephen WT: Fragile X Syndrome: Loss of Local MRNA Regulation Alters Synaptic Development and Function. Neuron 2008; 60: 201-214.
DeSantis C, Ma J, Bryan L: Breast Cancer Statistics, 2013. CA: A Cancer Journal for Statistics 2014; 64: 52-62.
Garber KB, Visootsak J, Stephen WT: Fragile X Syndrome. European Journal of Human Genetics; 16: 666-672.
Pandey M, Gangadharan SP, Nandkumar D, Bejoy TC, Badridien HM, and Rita K: Distress, Anxiety, and Depression in Cancer Patients Undergoing Chemotherapy. World Journal of Surgical Oncology 2006; 4.
Poleshuck EL, Kratz J, Andrus CH, Hogan LA, Jung BF, Kulick DI, Dworkin RH: Risk Factors for Chronic Pain Following Breast Cancer Surgery: A Prospective Study. The Journal of Pain 2006; 7: 626-34.
