Familial Mediterranean Fever

Marfan Syndrome, which is named after Antoine Marfan who first described the disorder in 1896, is a genetic disorder that affects the connective tissues found throughout the body. This syndrome can affect many different parts of the body, but the most commonly affected are the heart, blood vessels, bones, joints, respiratory system, nervous system, and eyes. Thankfully, a person’s intelligence is never affected. Marfan syndrome affects people from all races and ethnic backgrounds, and this often makes it hard to detect. It is a pretty rare genetic disorder affecting only about 1 in every 5,000 people.

A permanent change in a gene that can be passed on to children. The rare, early-onset familial

Marfan syndrome is a primarily an autosomal dominant disorder that affects 1 in 5000 people worldwide. Marfan syndrome is connective tissue disorder that results in a mutation in the Fibrillin 1 gene. The life expectancy of an individual with Marfan syndrome is close to normal with early detection, but Marfan syndrome still remains underestimated due in large part to characteristics similarities that are common in general public. This is compounded by the 25 percent of individuals with a new gene mutation on Fibrillin 1. It is imperative that nurses have a greater understanding of Marfan syndrome in order to facilitate a genetic referral for an early and accurate Marfan syndrome diagnosis. This should include the mechanism of how this

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

FBN1 mutation scanning/ Sequence analysis – this test detects sequence variants and has a mutation detection frequency of 70 – 93%.

In the case of NF-2, however, final results are similar among family members; a strong genotype-phenotype correlation is believed to exist. Both NF 1 and NF 2 can also appear to be spontaneous de novo mutations, with no family history. These cases account for about one half of neurofibromatosis cases. Neurofibromatosis-1 is found in approximately 1 in 2,500-3,000 live births (carrier incidence 0.0004, gene frequency 0.0002) and is more common than NF-2.

The 1760T and 752T alleles were in complete linkage disequilibrium, in cis position, in previous reports [4,5]. The genomic position of the third mutation, c.156_158dup (p.Gln55dup, n.-1184_-1183insTGC in HGVS nomenclature) encompasses several deletion/insertion variations (-/TGC/TGCTGC/TGCTGCTGC). The digenic mutations in MTHFR and POLG1 were consistent with the biochemical and metabolic abnormalities. Fasting serum homocysteine was >150 µmol/l before treatment and decreased below 70 µmol/L after treatment, in both cases. Analyses on skin fibroblasts from one of the patients showed decrease of MTHFR activity (1.9 nmol/mg/h vs 6.1 nmol/mg/h in control fibroblasts). The MTHFR p.Arg157Gln mutation is located near the binding site of riboflavin. Consistently, adding riboflavin in culture medium produced a 3-fold increase of MTHFR activity in the patient’s fibroblasts. The normal cellular uptake of labelled cobalamin ([57Co]CNCbl) and

Cystic fibrosis (CF) is also known as mucoviscidosis. It is an autosomal recessive disorder caused by the presence of mutations in both copies of the gene for the protein cystic fibrosis conductance regulator CFTR. It affects mostly the lungs but also the pancreas, liver, kidneys and intestines. Those with a single gene are known to be carriers and do not suffer from the disease. One of the evolutionary advantages is that people with such disorder like cystic fibrosis are resistant to cholera and other associated diarrhea, typhoid and tuberculosis. Cholera, typhoid and tuberculosis require hosts with normal CFTR to function.

Affecting as many as one in every 10,000 to 20,000 people (“Donohue”), Marfan syndrome is one of the most common genetic abnormalities. Despite the fact that a cure has not been discovered yet, medical researchers as well as doctors are striving their best to prevent or slow the symptoms of Marfan syndrome and to reduce the complications as well.

What is the disease? What is the mutation that is associated with the disease? What is known about how the mutation reported in the Journal article results in the disease

As mentioned before, MLIV is a rare autosomal recessive disorder. The gene affected is the MCOLN1 gene, which is located on chromosome 19p13.2–13.3. The MCOLN1 gene is around 12 kb and contains 14 exons (1). The most common pathogenic variant of the mutation involves splice variant c.406-2A>G. This splice variant prevents splicing of the mRNA encoding TRPML1 at exon 4, which results in abnormal mRNA (1). The second most common involves a deletion of 6.4 kb of DNA, including exon 1 through 5 and a portion of 6 in the gene (1). Other variants include frameshift and missense mutations in DNA sequences involving the MCOLN1 gene.

Marfan syndrome is caused by transformations in the FBN1 gene. FBN1 mutations are associated with a broad continuum of physical appearance ranging from isolated features of Marfan syndrome to a dangerous and rapidly progressive form in infants.

Familial Mediterranean Fever (FMF) is a very rare disease that tends to attack individuals of the following ancestry: Turkish heritage; Arab heritage; and Sephardic (non-Ashkenazi) Jewish heritage. This paper delves deeply into what is known about the disease, what remedies if any are appropriate, and other ramifications of the disease.

Once the MEPC2 gene was implicated in RTT there was an intense period of cohort screening in an attempt to elucidate genotypic-phenotypic associations (Weaving, 2005). As it stands there are an approximate 800 pathogenetic mutations that are currently found within the MEPC2 (Cheadle, 2000). These include missense, nonsense, frame shifts and inversions as well as large deletions which have now been identified as being present in 15% of apparently MECP2 mutation negative individuals. These large deletions would have gone undetected without the application of NGS techniques (Weaving, 2005). Work by Wolffe aimed to explore the associations between the type of MECP2 mutation and the degree of phenotypic severity. While work in this area is largely conflicted his study was concurrent with previous work concerning the view that particular mutations that were either point mutations, such as p.Arg133Cys, p.Arg294X, p.Arg306Cys and 3’ truncations resulted in a reduction in the severity of symptoms. There is also a wide consensus that missense mutations produce a less acute phenotype than nonsense mutations and that the most severe clinical features were the consequence of splice sites or large insertions or deletions (Weaving, 2005). The MEPC2 gene codes a protein, which is apart of the methyl-CpG-binding family. It contains three conserved functional domains. Work by Wolffe also examined which aspects of the protein were affected by each type of mutation. He found that Nonsense

The present study could find an association between MBL2 exon 1 codon 54 polymorphism and susceptibility to RVVC. Carriage of mutant allele “B” was more frequent in women with RVVC (16.1%) than in controls (6%). In previous studies, MBL2 codon 54 polymorphism has been associated with increased frequency of RVVC in Latvian, Brazilian, Chinese, and Belgium [12, 32, 34, 35] but not Italian patients [31].