FH Homozygotes

These methods of genetic testing are accurate, as long as the genetic origin of the tested disease is known (Mahdieh & Rabbani, 2013), but their reliability is harmed by the fact that the results determine probability of diseases occurring (Holt, 2012). Even though a test accurately determines the presence of a given mutation, that mutation may only indicate a patient’s predisposition to developing symptoms. Since other genes or environmental factors may play a part in the tested disease, the results of testing aren’t entirely reliable for a conclusion of whether or not a patient will develop the disease.

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).

As controversy rises over the ability to test embryos for genetic defects one must chose a side. In this essay I will be examining the debate over the ability to screen for familial hypercholesterolemia in embryos. Familial hypercholesterolemia is a condition which often kills children before puberty. This condition causes elevated cholesterol and can cause angina at a young age. Many children with this disease die at a young age and most suffer at least one heart attack by their thirties. There is however, a treatable version of this disease which is the heterozygous variation. 1 in 500 people develop the heterozygous disease while 1 in 250,000 people develop the more serious homozygous variation. Critics argue that the ability to test for Familial hypercholesterolemia will allow couples to destroy embryos that have the potential to live healthy lives. In this essay I will argue that genetic testing for familial hypercholesterolemia is permissible.

The goal: To identify the difference in severity of FH for the homozygous and heterozygous genotypes. Also, to learn about statins.

If the disease is of the homozygous variety in a person it occurs in 1 in every 10,000 people. If the disease is heterozygous then in is found between 1 in every 5,000 people and 1 in every 15,000 people. It is more common in Venezuela then anywhere else, although it is discovered in about 240 people per year in the United States. A DNA marker G8 (D4S10) is closely linked to HD and has been identified as being on the # 4 chromosome and can detect Heterozygotes. (Encarta Encyclopedia) The connection between G8 and HD has not been clinically used because it’s a very serious disease. Theoretically a homozygote can be detected parentally. If a female has a child and she is tested positive for HD and has no history of it, then the father as well as the child a bound to end up with the disease. (Textbook

There are a ton of reasons for one to be diagnosed with schizophrenia. Schizophrenia is a long-term mental disorder of a type involving a breakdown in the relation between thought, emotion, and behavior, leading to faulty perception, inappropriate actions and feelings, withdrawal from reality and personal relationships into fantasy and delusion, and a sense of mental fragmentation. Schizophrenia can be hereditary in some cases but in most it has been known to be environmental. One cause liked to schizophrenia is low levels of folate acid and defective folate metabolism which mean the MTHFR gene mutation can lead to schizophrenia in some cases.

LDL deposits cholesterol in the arteries which cause plaque that restrict blood flow and increase the risk of a heart attack. (Timberlake, 2014, pg. 535)

From the genogram, the following health problems were identified; Heart Disease, Stroke, Hypertension, Type 1 Diabetes, High Cholesterol, Osteoporosis, Dementia, Depression, Heart Attack and Unknown Disease. Unknown disease is seen prevalent in generations of MEL’s family but cannot be the focus for this paper in the absence of any pathophysiological findings. As a result, I will be focusing on the second most prevalent health problem which is type one diabetes.

The majority of the diagnosed AD cases (>95%) fall under the late-onset form of AD (LOAD), with the age of onset >65 years. In contrast to the genetics of EO-FAD caused by autosomal dominant pathogenic variants showing a Mendelian inheritance mode, LOAD is attributed to genetically complex and heterogeneous variants that modify disease susceptibility depending on the environmental factors and life style of the individuals. The e4 allele in the Apolipoprotein E (APOE) (19q13.32) gene remains the most established genetic risk factor in LOAD. The risk effect of APOE-e4 (~4 to 15 fold) has been consistently replicated in a large number of study cohorts from different ethnic groups. There are at least three major alleles in the APOE gene corresponding to combinations of two amino acid changes at residues 112 (rs429358) and 158 (rs7412), which determine the three alleles: e2 (Cys112/ Cys158), e3 (Cys112/Arg158) and e4 (Arg112/Arg158). The most commonly occurring e3 allele is present in more than half of the general population (up to 70%).

Goldstein also studied that the level of LDL in the blood is inversely related to the LDLR activity. The LDL binds to the receptor via its principal surface protein called apolipoprotein B-100. The receptor, with it’s acquired LDL, then enters the call. This process is called Receptor-Mediated Endocytosis. When the number of functioning receptors is diminished because of a receptor mutation, LDL with its load of cholesterol

Cardiovascular disease is the world's public health enemy number one, and Coronary atherosclerosis is the leading cause of morbidity and mortality among all cardiovascular diseases, it costs a huge amount of medical and social resources each year and seriously affects the public health and life. With the development of society, the cardiovascular disease in developed and developing countries is the main health issues, so how to accurately distinguish between high-risk groups, and further evaluate the risk stratification and prognosis of the population is extremely important. Our study found that PDW, MPV, and P-LCR changes were positively correlated with coronary heart disease, both for patients with stable or unstable coronary heart disease

LDLR ko. mice. For therapeutic LDLR and VLDLR liver gene transfers, 50 LDLR knock-out (ko.) mice were fed a Western type (WT) high fat diet for two weeks for them to develop hyperlipidemic state, induce severe hypercholesterolemia, and initiate the progression of atherosclerosis. The study design had four parallel therapeutic gene transfer treatments versus controls. The SB elements were either co-administrated into mice livers in combination of SB100x and the T2/LSP-mLDLR or T2/LSP-mVLDLR transposon, or using the single ‘all-in-one’ plasmids. The T2/CAG-lacZ transposon vectors were used as gene transfer controls as the two promoters performed equally well in the in vitro testing when the respective T2/CAG-mLDLR and T2/LSP-mLDLR plasmid combinations were compared with each other and as the use of CAG promoter allowed performing a biodistribution study. Also, non-treated mice were included in the study. The mice were randomly divided into different treatment or control groups, and equal numbers of both sexes were selected for all groups. The littermates were divided into individual cages at the start of the high fat diet. To assess the normal blood lipid profiles the first blood samples were collected from randomly selected mice before they were put on a high fat diet. The second blood samples were collected two weeks later from all the mice to assess the ‘null blood samples on a WT diet’ before the gene transfers. The gene transfers were conducted using

Refsum disease is an inborn error of lipid metabolism classically characterized by a tetrad of clinical abnormalities: retinitis pigmentosa, peripheral neuropathy, cerebellar ataxia, and elevated protein levels in the cerebrospinal fluid (CSF) without an increase in the number of cells. It is inherited in an autosomal recessive pattern. The prevalence of Refsum disease is unknown, although the condition is thought to be uncommon. The fact that most individuals described in the literature have been identified in the United Kingdom and Norway, where awareness of Refsum disease is high, suggests that the true prevalence of Refsum disease may be much higher than currently reported.

Congenital generalized lipodystrophy is a rare autosomal recessive disorder (38). Several CGL loci have been previously identified, AGPAT2 (CGL type 1), BSCL2 (CGL type 2), CAV1, and PTRF (CGL type 4), with the first two accounting for about 95% of

A GWAS found a significant association between the SNP rs12670798 and low-density lipoprotein (LDL) cholesterol3. Previous studies have shown that high levels of LDL cholesterol are associated with increased risk of coronary artery disease (CAD) 4, 5, a leading cause of morbidity and mortality worldwide6, 7. An increased understanding of the molecular mechanisms which regulate LDL cholesterol levels will facilitate the discovery and development of novel therapeutics for the treatment of CAD and thus, the investigation of SNPs which are associated with LDL cholesterol is of upmost importance4.