MTHFR Genetic Analysis

13. The effect on the folate concentration was that the exposed group again had lower levels then the non-exposed group.

This experiment aimed to investigate the allele frequency of the PTC taster gene (TAS2R38) in a small population, represented by the students in class. The genotype obtained from genomic analysis (via PCR and gel electrophoresis) confirmed that the genotypic result is consistent with the phenotypic result observed at the beginning of the lab.

Schizophrenia may result in hallucinations, delusions, and extremely disordered thinking and behavior that impairs daily functioning. It is a chronic condition, requiring lifelong treatment. It is unknown of what causes schizophrenia, but researchers believe that genetics, brain chemistry and environment contributes to development of the disorder. (Mayo Clinic)

Although folliculin function is speculative, its highly conserved. FLCN gene contains 14 exons and exon 11 is constituted as a mutational hotspot due to the majority BHD patient population contain mutations in this exon. As many as 84 variants in the folliculin gene are reported to cause BHD by which majority of the mutations cause FLCN truncation deletion (Hasumi et al., 2008). FLCN protein structure and

Not every person with schizophrenia will have all symptoms, and the symptoms of schizophrenia may change over time.” (Schizophrenia: Sings, Types & Causes, Authors: Melinda Smith, M.A., and Jeanne Segal, Ph. D., Last Update February 2014, http://www.helpguide.org/mental/schizophrenia_symptom.htm) It is believed that no one single gene causes schizophrenia it is said that more than one gene is the cause of increased risk of schizophrenia there is a greater risk of a child developing it. There is more to this story than genetics; some type of early childhood trauma may play a role in schizophrenia. (The Causes of Schizophrenia http://www.nami.org/content/navigationmenu/mental_illnesses) The onset of schizophrenia occurs between the age of 15 and 45 in males, it is more common in males than females. There is talk from researchers about children with schizophrenia also having other mental disorders which include ADHD, ADD and bipolar disorder. Although there is not a tremendous amount of research they also believe that most children have had someone in their family who has been in a psychiatric hospital at some point and a family history of schizophrenia and some type of trauma. There is also a high number of suicide attempts in children with schizophrenia, there is also research to show that there is an increase of odds of schizophrenia in African Americans and Hispanic youth, however it is also very easy to misdiagnose these

Sequences of the MC1R ascertained from human populations were compared with other mammals by constructing a parsimony tree to illustrate key amino acid substitutions. Dn:Ds (Ka:Ks) ratios denoting the number of nonsynonymous substitutions/non-synonymous site and the number of

The National Institute of Health (2014) listed the most common form of familial hyperinsulinism to be an autosomal recessive genetic defect that is common among the Ashkenazi Jewish population. This condition affects 1 in 66 carriers who are Ashkenazi Jews since they have reported consanguineous marriages (NIH, 2014). Among Ashkenazi Jews, two single ABCC8 mutations account for 90 percent of cases of familiar hyperinsulinism (Mazor-Aronovitch, et al, 2007). The incidence of FHI in individuals of northern European descendants is approximately 1:30,000 live births. The incidence is increased in genetically isolated populations with a high prevalence of consanguinity (UpToDate.com).

First off I would like to tell you what exactly schizophrenia is. Schizophrenia is a brain disease, with concrete and specific symptoms due to physical and biochemical changes in the brain. This illness strikes young people in their prime age usually between 16 and 25. Schizophrenia is almost always treatable with medication. Contrary to what most think schizophrenia is not a "split personality", or caused by childhood trauma, bad parenting, or poverty, and not the result of any action or personal failure by the individual.(3)

The MTHFR gene supply instructions for making an enzyme known as methylenetetrahydrofolate reductase. This enzyme function a role in processing amino acids, the building blocks of proteins. Methylenetetrahydrofolate reductase is substantial for a chemical reaction involving forms of the vitamin folate (vitamin B9) .Precisely, this enzyme converts a molecule called 5,10-methylenetetrahydrofolate to a molecule called as 5-methyltetrahydrofolate. This reaction is desired for the multistep procudure that converts the amino acid homocysteine to another amino acid, methionine. The body uses methionine to make proteins and other important compounds.

Methotrexate has as its principal mechanism of action the competitive inhibition of the enzyme folic acid reductase. Folic acid must be reduced to tetrahydrofolic acid by this enzyme in the process of DNA synthesis and cellular replication. Methotrexate

Gene – the unit or heredity occupying a particular location on the chromosome and passed on to offspring

In many nations the commonness of the heterozygous type of FH, in which a faulty gene for the LDLR is acquired from one parent and a normal gene from another is 1:500 and that of the homozygous form is 1:1,000,000 people which renders FH likely the most well-known illness created by a single gene mutation in people (Goldstein et al., 2002). it has been evaluated worldwide there are 10,000,000 individuals with FH of whom under 10% are diagnosed, and under 25% treated with LDL-lowering medications (Civeira, 2004). In many cases the diagnosis is missed until an intense clinical episode occurs. in a little number of genetically isolated groups the pervasiveness of heterozygous FH is much higher than in many populaces. In these populaces, few DLR mutations prevail. Increased prevalence of FH because of the founder impact can be distinguished in such populaces as Ashkenazi Jews, Africans, French Canadians, Lebanese, Icelanders and Finns (Austin et al.,

Many doctors are not for sure what causes schizophrenia but they have many ideas about what causes it.

There are many causes to Schizophrenia. Many causes are genetics, brain chemistry and structure, and the environment of a human being. Genetically Schizophrenia can run through a family and can be passed on generations at a time. “Individuals with a first degree relative (parent or sibling) who has schizophrenia have a 10 percent chance of developing the disorder, as opposed to the 1 percent chance of the general population.” (Helpguide.org) Identical twins are a good example of this. “If an identical twin is diagnosed with Schizophrenia the other twin is 50 percent more likely to also be diagnosed with the mental disorder (psychcentral.com).” Brain chemistry and structure is another big factor in the cause of Schizophrenia. Neurotransmitters-

Schizophrenia is a psychotic disorder that causes severe mental disturbances which disrupt ones thoughts, speech, and behavior. According to Paul Thompson, Associate Professor of Neurology, one percent of the world’s population suffers from this disorder. There is no one specific cause of schizophrenia, because it is caused by a combination of problems during development. It is a disorder which not only affects the patient, but their family and society as well. Schizophrenia can be a debilitating disorder, however, there are many treatments that can allow people who suffer from it to lead normal lives.