Methylenetetrahydrofolate Reductase (MTHFR) Methylenetetrahydrofolate reductase also known as MTHFR is a gene that is essential for healthy development. This gene produces an enzyme that aids in the absorption of folate, as well as other vitamins and minerals. An MTHFR gene mutation however can cause serious issues. This mutation will prevent one from obtaining the nutrients they need from the foods they eat. The effects of MTHFR mutation, such as living with severe inflammation, irritable bowel syndrome, mental illness, hair loss, as well as having an increased risk of miscarriage, cardiovascular disease and many other issues can be devastating. The MTHFR enzyme is required for methylation. In the article, Methylation Problems Lead to 100s of Diseases, it is stated that “Methylation is the process of taking a single carbon and three hydrogens, known as a methyl group, and …show more content…
applying it to countless critical functions in your body such as: thinking, repairing DNA, turning on and off genes, fighting infections and getting rid of environmental toxins to name a few” (Cohen). When one has an MTHFR gene mutation, methylation does not occur naturally the way it should; consequently toxins build up in the body and causes inflammation. MTHFR induced inflammation is rarely helped by over the counter anti-inflammatory or pain medications. Therefore people with MTHFR often struggle with chronic debilitating pain. Irritable bowel syndrome (IBS) is one of the most common gut issues in Americans. IBS is also one of many issues caused by MTHFR. The 2013 composition, Things That Plague Us: Gut Issues, informs that “Quite a few gut issues are genetically linked to MTHFR and, as unaddressed MTHFR gene mutations can stall the body’s detoxification and elimination process, gut issues are prone to follow” (Andrea). Gut issues are no joke. These types of problems can wreak havoc on a person’s life. Many mental health issues such as depression, anxiety, and bipolar disorders have also been linked to MTHFR mutation. It is acknowledged in psychology today’s publication, A Genetic Mutation That Can Affect Mental & Physical Health, that “One function that is particularly important to mental health is the conversion of an essential B-vitamin, folate, into the more usable form, L-methylfolate. L-Methylfolate enables our bodies to convert the amino acid homocysteine to another amino acid, methionine. The body then uses methionine to make proteins and other important compounds, including neurotransmitters (serotonin, dopamine, norepinephrine). These brain chemicals are essential for a number of aspects of mental health; thus, when this process is impaired, it can increase the likelihood of the mental health issues mentioned previously” (Stein). Hair loss is another symptom of MTHFR mutation. This is an essential fact to know if you have hair loss. MTHFR induced hair loss results from low b9, b12 and iron. Absolique Hair Health Clinic, said “We would like to share some light on MTHFR. This condition is becoming more common amongst clients seeking help for hair loss and hair loss treatment. MTHFR is a gene mutation that affects the body’s ability to use folic acid or folate & increases risk of disease and malnutrition” (Brisbane). MTHFR gene mutation is one of the leading causes of miscarriage. Due to the lack of folic acid and other vital nutrients, women with MTHFR mutation are prone to pregnancy complications and early miscarriage. Is There a Genetic Cause for Recurrent Miscarriage, is an exposé which states that, “Homocysteine is amino acid naturally produced by the body that aids in the metabolism of B vitamins. In the presence of the MTHFR mutation, homocysteine cannot be effectively recycled and begins to accumulate in the blood. When this happens, it can lead to an inflammatory condition called homocysteinemia, which is a known risk factor for coronary artery disease. It is believed that homocysteinemia may cause the formation of tiny blood clots which block the flow of nutrition to the placenta, essentially starving the fetus and triggering a spontaneous abortion” (Danielsson). Cardio vascular disease is another very serious health condition associated with MTHFR gene mutation. The U.S. National Library of Medicine, published an article stating “Homocysteine is an emerging new risk factor for cardiovascular disease. It is a thiol compound derived from methionine and involved in two main metabolic pathways: the cycle of activated methyl groups, requiring folate and vitamin B12 as cofactors, and the transsulfuration pathway to cystathionine and cysteine requiring vitamin B6 as cofactor. The homocysteine metabolism represents an interesting model of gene-environment interaction. Elevations in homocysteine may be caused by genetic defects in enzymes involved in its metabolism or by deficiencies in cofactor levels. A common mutation in the gene coding for the 10-methylene tetrahydrofolate reductase (MTHFR) is associated with a decreased activity of the enzyme due to thermolability. A relative deficiency in the remethylation process of homocysteine into methionine leads to a mild-to-moderate hyperhomocysteinemia, a condition recognized as an independent risk factor for cardio vascular disease” (Cortese, Motti). Many forms of cancer have also been linked to an MTHFR mutation. In the article The Role of MTHFR Gene Mutation in Cancer Development, it is stated that “There are major disruptions of MTHFR that can impact the risk of cancer developing. Of the many biological pathways it is involved with, the conversion of homocysteine into methionine can be disrupted when the concentrations of precursor molecules exceed normal. For instance, instead of thymine, uracil may be incorporated at exceedingly high numbers. This repetitive genetic variance increases the risk for DNA damage and further genetic mutation. When this methionine compound becomes altered in any way, DNA and genetic expression can be modified. Modifications to our genetic programming are linked to cancer growth” (Jockers). There are two types of the MTHFR mutation.
The first and most common is called the MTHFR C677T mutation. According to the 2015 article, Homocysteine and MTHFR Mutations, “The mutation is extremely common in certain ethnic and geographic populations. In the United States, 40% of white and Hispanic individuals have the MTHFR C677T gene mutation. The mutation is less common in blacks, only affecting about 2%. 20% of the North American, European, and Australian, populations have the MTHFR C677T mutations” (Moll, Varga). The second and less common type is called a MTHFR A1298C gene mutation. The Homocysteine and MTHFR Mutations article, also states that “MTHFR A1298C mutation is found in 12% of North American, European, and Australian populations. This type of MTHFR mutation is less common in among the Hispanic, Chinese and Asian ethnicity. It only affects 5% of Hispanics, and 4% of Chinese, and Asians” (Moll, Varga). Some people may also have what is called a double MTHFR gene mutation. This occurs when an individual has one abnormal MTHFR C677T gene plus one abnormal MTHFR A1298C
gene. An MTHFR mutation can cause many problems. This condition takes a toll on the individual’s body. The MTHFR mutation can affect a person physically, mentally and emotionally. Anyone with this condition should consult with a genetic specialist for treatment. If diagnosed with an MTHFR gene mutation one may also want to speak with a genetic counselor. It is clear to see that MTHFR mutations affect many people in a number of ways. MTHFR mutations can pose severe consequences. It is hoped that anyone reading would find this enlightening and beneficial. A wealth of information has been provided. The above information shows the effects caused by an MTHFR gene mutation. Work Cited Andrea. “Things That Plague Us: Gut Issues • MTHFR Living.” MTHFR Living. 4 Dec. 2013. Web. 15 Apr. 2018 Brisbane. “MTHFR and Treatment for Hair Loss Brisbane.” Brisbane Hair Loss | Absolique Hair Health Clinic, 9 Aug. 2017. Web. 15 Apr. 2018. Cohen, Suzy. “Methylation Problems Lead to 100s of Diseases.” Suzy Cohen Suggests Ways to Heal Naturally without Medication. Web. 15 Apr.2018. Cortese, C, and C Motti. “MTHFR Gene Polymorphism, Homocysteine and Cardiovascular Disease.” Public Health Nutrition. U.S. National Library of Medicine. 4 Apr. 2001. Web. 17 Apr. 2018. Danielsson, Krissi. “Is There a Genetic Cause for Recurrent Miscarriages?” Verywell Family. 11 Jan. 2018. Web. 15 Apr. 2018. Jockers, David. “The Role of MTHFR Gene Mutation in Cancer Development.” The Truth About Cancer. Web. 17 Apr. 2018. Moll, Stephan, and Elizabeth A. Varga. “Homocysteine and MTHFR Mutations.”Circulation. American Heart Association, Inc. 7 July 2015. Web. 15 Apr. 2018. Stein, Traci. “A Genetic Mutation That Can Affect Mental & Physical Health.” Psychology Today. Sussex Publishers. 5 Sept. 2014. Web. 15 Apr. 2018.
The isomerization procedure was done in order to create dimethyl fumarate from dimethyl maleate. Dimethyl maleate and dimethyl fumarate are cis and trans isomers, respectively. This procedure was done via a free radical mechanism using bromine. The analysis of carvones reaction was done in order to identify the smell and optical rotation of the carvone samples that were provided. The odor was determined by smelling the compound and the optical rotation was determined using a polarimeter.
Alcohol, which is the nucleophile, attacks the acid, H2SO4, which is the catalyst, forming oxonium. However, the oxonium leaves due to the positive charge on oxygen, which makes it unstable. A stable secondary carbocation is formed. The electrons from the conjugate base attack the proton, henceforth, forming an alkene. Through this attack, the regeneration of the catalyst is formed with the product, 4-methylcyclohexene, before it oxidizes with KMnO4. In simpler terms, protonation of oxygen and the elimination of H+ with formation of alkene occurs.
Marfan syndrome is a Single Gene Mutation and the gene that is mutated is FBN 1 (Fibrillin 1).The gene is located on chromosome 15 and the disorder’s mode of inheritance is autosomal dominant. This means that females and males are equally affected and that only one gene, “abnormal” gene is needed from either parent to be inherited in. Fibrillin 1 basically affects the elasticity of connective tissue. The gene makes many fibrillin proteins and these fibrillin proteins then join together to form a long, and string like object called microfibrils.
Marfan syndrome (MFS) is known as an autosomal dominant hereditary disorder of connective tissue. Connective tissue helps support all parts of the body. It also helps control how the body grows and develops. Principal manifestations involve the ocular, skeletal, and cardiovascular systems. MFS is caused by mutations in the glycoprotein gene fibrillin-1 (FBN1) which is located on chromosome 15(Marcheix, 2008). There are many mutations that can cause Marfan Syndrome, but most common are missense in that they are single-nucleotide changes that result in the substitution of a single letter that leads to a single amino acid change in the protein. The change in the amino acid alters the shape of the fibrillin proteins. The irregularly-shaped protein then assembles into irregularly shaped microfibrils. Fibrillin is a major element of microfibrils, which store a protein called transforming growth factor beta (TGF-β), a critical growth factor. TGF-β helps control the proliferation of cells, cell differentiation, cell movement, and apoptosis. Microfibrils help regulate the availability of TGF-β, which is deactivated when stored in microfibrils and activated when released. The increase in TGF-β and abnormalities involving microfibrils causes problems in connective tissues throughout the body such as malformations and disfigurements of the ligaments, spinal dura, lens zonules, and lung airways(Marcheix, 2008). The heart is also greatly negatively impacted through a weakening of the aortic wall, progressive aortic dilatation or aortic disjointing can occur because of strain caused by left ventricular contractions.
Cystic fibrosis is one of the most common lethal mutations in humans. The autosomal recessive allele is carried by 1/20 Caucasians, 1/400 couples will have children with the disease, and ¼ children will be afflicted. If untreated, 95% of affected ch ildren will die before age five (Bell, 1996).
Chronic illness can be very difficult to manage. Cystic fibrosis is the most common life-limiting autosomal (not sex-linked) recessive disease among Caucasian heritage. Although technically a rare disease, it is ranked as one of the most wide spread life-shortening genetic diseases. It is most common among nations in the Western world minus the exception of Finland but it is equally diagnosed between male and female.
Albinism is a genetically linked disease and is presented at birth; it is characterized as a lack of pigment called melanin that normally gives color to a person’s skin, hair and eyes. This results in milky white hair and skin, and blue- gray eyes. Melanin is synthesized from amino acid called tyrosine, which originates from the enzyme tyrosinase. Albinism affects all races and both sexes; people with this disease have inherited a recessive, nonfunctional tyrosinase allele from both parents (Saladin 189). The inheritance of Albinism is coded in the gene of the parent’s alleles. Alleles are two different versions of the same gene or trait and are found on the same place of a chromosome. One allele is coded for the production of melanin that will produce normal skin, hair and eye color and another allele that represent the lack of melanin that produces abnormal skin, hair and eyes.
Since the gene for HD is dominant, there is a 50% chance of a sufferer's
This disorder is caused by an inherited flaw on one gene (Mayo Clinic, 2010). Individuals in of western European around 1 in 20,000 are born with a gene that causes this disorder. Huntington’s disease is not as much common in areas such as Asia and Africa (Your Genes Your Health, 2012). People all over the world are affect by HD. HD is another way of saying Huntington’s disease. On Figure 1.0 you can see a person who has been affected with HD.
Alpha thalassemia is a blood disorder that reduces the production of hemoglobin, which is the protein in red blood cells responsible for carrying oxygen throughout the body. Those affected experience a shortage of efficient oxygen-carrying red blood cells, causing anemia, and manifesting in the observable signs of: pale skin, weakness, fatigue, or serious complications when coupled with other illnesses. Thalassemia is a blood disorder passed down through families (since it is inherited siblings may share this disease) in which the body makes an abnormal form of hemoglobin, resulting in excessive destruction of red blood cells and diminishing the affected person’s normal, healthy red blood cells. Damage to the body is caused by either a genetic mutation or a deletion of HBA1 and HBA2 genes. Because each person inherits two alpha-globin alleles from each parent, when both parents are missing at least one alpha-globin allele, the child is at risk of having Hb Bart syndrome, HbH disease, or alpha thalassemia depending on the number of missing working alleles. Involving the genes HBA1 and HBA2, alpha-thalassemia is due to impaired production of either 1, 2, 3, or 4 alpha globin chains, leading to an excess of beta globin chains. There are four copies of the gene instructing the body to make alpha globin; the more functioning genes a person has, the more alpha globin is made, whereas the number of non-working genes determines what type of alpha thalassemia a person has since when one or more of the alpha globin genes is not working properly, less alpha globin is made. There exist different types of alpha thalassemia: having three normal alpha genes results in a silent carrier state; two normal alpha genes results in mic...
The most common forms of the differing Thalassemias are Alpha-Thalassemia and Beta-Thalassemia. Thalassemia is also commonly known by Cooley's anemia and Mediterranean anemia. Alpha Thalassemia is when genes related to the alpha globin protein are altered or missing, which is known as gene mutation. Alpha Thalassemia is primarily dominant in people from Africa, Middle East, Southeast Asia, and China. Alpha Thalassemia has 5 subtypes while Beta Thalassemia has 3 main subtypes. Beta Thalassemia exists when defected genes alter production of the beta globin protein. Beta Thalassemia is prominent in people from the Mediterranean region, Italy, Middle East, Greece, Southeast Asia, Africa, and Southern China. However, Alpha and Beta Thalassemia both have a major and minor form of...
As previously stated, there are several ways that these changes can occur, but the ones I will be focusing on are changes occurring to methyl and acetyl groups. The mechanism of heritability in animals is information coded into genes. Genes are wrapped around histones in the nucleus. When methyl groups attach to these histones, it winds the genes tighter, and since the shape is altered, it also alters the protein the gene codes for. Generally speaking, when you add a methyl group onto the histones, or "spool" of the gene, it makes it harder to code that gene’s proteins, just like if you got something stuck in the chain on your bike and tried to pedal it. The more methyl groups that build up, the worse the problem becomes. However, in most of the cases acetylation unwinds some of the histones, activating or reactivating a gene. Scientists are explo...
Most diseases are caused by a type of genetic component. Many of the diseases that have been caused by gene mutations are undiagnosed. These remain undiagnosed because the disease is so rare that the doctor does not know how to diagnose the patient. Many sy...
The second one is beta thalassemia. This occurs when similar gene defects affect production of the beta globin protein. It happens mostly in people of Mediterranean origin, Chinese, other Asians, and African Americans. You need both alpha- and beta-globin to make hemoglobin. If you have one damaged gene, you may have mild anemia and probably won't need treatment. This is called beta thalassemia minor or beta thalassemia trait. It happens when you get a normal gene from one parent and a thalassemia gene from the other. When both genes are damaged, it means you got a thalassemia gene from each parent. You may have moderate or severe anemia. If you have moderate anemia, you may n...
For example, if someone is of Jewish descent have a higher prevalence of harmful BRCA1 and BRCA2 mutations than people in the general population. Other ethnic and geographic populations around the world, such as the Norwegian, Dutch, and Icelandic peoples, also have higher prevalences of specific harmful BRCA1 and BRCA2 mutations.