MTHFR Genetic Analysis

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

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

Many researchers believe it to be a combination of factors such as brain chemistry, genetics, and various environmental factors. Neuroimaging studies have shown differences in the brain structure and central nervous system of people with schizophrenia. While researchers aren't certain about the significance of these changes, they indicate that schizophrenia is a brain disease. (Mayo Clinic Healthy Living, October 11, 2012) Also, people who have problems with certain naturally occurring brain chemicals- including some neurotransmitters called dopamine and glutamate- have a higher risk of contracting schizophrenia. Other factors that may increase the risk of a person developing schizophrenia is having a family history of the disorder, pregnancy complications, taking certain psychoactive drugs, and exposure to neurotoxins at a young

Schizophrenia is a neurological disorder that affects the cognitive functions of an individual. The cause of this illness is unknown, but there are several theories of how an individual may acquire schizophrenia. Because there are many symptoms of the disease and because the symptoms can vary quite dramatically among several individuals and even within the same individual over time, the diagnosis of schizophrenia can be quite difficult.

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)

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 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).

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.

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

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 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

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.

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-

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