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…
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
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.
A disease that results from a change to an individual's DNA is classified as a genetic disorder. The change can be very small such as a single mutation in a particular gene or complex like the addition or removal of a complete chromosome. An instance of a genetic disorder that affects a particular gene is Marfan syndrome. Marfan syndrome is an inherited disorder which alters the connective tissue in the body (Frey R, Sims J, 2010). Individuals with this disorder are affected in multiple areas because connective tissue is present all through the body. It is common for affected individuals to show irregularities in their eyes, circulatory system, skin, lungs, and musculoskeletal system (Frey R, Lutwick L, 2009).
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.
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.
Feng. J. Chang, H. Li E., Fan G. Dynamic expression of de novo DNA Methyltransferases DNMT3a and DNMT3b in the central nervou system. J Neruoscience Res, 2006 (79), p734-746
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...
Since the gene for HD is dominant, there is a 50% chance of a sufferer's
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...
Familial hypercholesterolemia can appear in anyone who has a parent with the disease is at risk although it is more common among certain ethnics such as those of French Canadian, Lebanese, and South African descent.
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...
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.