Marfan Syndrome: Connective Tissue

Week five I wrote about a sperm bank that lost a deceased man's vials of sperm. Grief, sorrow, and suffering were all feelings felt by Sarah Robertson after the loss of her 29 year-old husband, Aaron Robertson. Aaron had passed away from a rare genetic disorder known as Marfan Syndrome. Sarah mourned the death of her husband, but had somewhat comfort in knowing that six vials of her deceased husbands sperm were safely stored at the Reproductive Fertility Center in Los Angeles. As time went on since Aaron passed, Sarah felt she was ready to put his vials of sperm to use. Devastating news awaited Sarah as she was told that all six vials had been reported missing. Sarah and her in-laws are suing the LA clinic and Dr. Peyman Saadat, the owner.

This syndrome is inherited in families in an autosomal dominant manner. Since Marfan syndrome is autosomal dominant, people with this disorder can be either homozygous dominant or heterozygous. This means that people carrying even one copy of the altered gene will have the disorder. Mutations of the FBN1 gene has been linked to the Marfan syndrome, although not everyone who has this mutation develops the disorder.

In the lab, we looked in the microscope at many different types of tissues such as epithelial, connective, and muscle. Within connective tissues, there are many tissue disorders that can affect your muscles, joints, or skin also your organs and organ systems. One connective tissue disease that I found was Marfan syndrome. Marfan syndrome is an inherited disorder that affects the connective tissue. Marfan syndrome affects about 1 in every 5000 people. People that have marfan syndrome usually have trouble with their eyes, heart, skeleton, and blood vessels. They are also known to have very long and unproportioned arms and legs and long spider- like fingers and toes. They can also have crowded teeth, sunken or bulging chest, flat feet, scoliosis, and many other different problems. These are just some of

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

NF1 is an autosomal dominant condition produced by lower production of the protein neurofibromin, which has a tumor suppressor action.

“Marfan syndrome is a genetic disorder that affects the body’s connective tissue.” (Marfan Foundation, 2014) Connective tissue serves a crucial role in the functions of the human body. More specifically, connective tissue is what holds together the cells, organs, and tissue in the human body. Due to its structural significance, it also helps the body to develop and grow properly. “Connective tissue is made up of proteins. The protein that plays a role in Marfan syndrome is called fibrillin-1.” (Marfan Foundation, 2014) Marfan syndrome stems from a mutation within the gene that codes for fibrillin-1. This mutation increases the production of a protein called “…transforming growth factor beta…” In response to the increase of this protein, problems in connective tissues result, therefore causing Marfan syndrome. (Marfan Foundation, 2014)

A genetic disorder is a genetic condition, originally caused by a DNA abnormality. Genetic disorders can be inherited or can form early, in the development of child’s womb. Marfan syndrome is a genetic disorder that affects the body’s connective tissues in many parts of the human body. These specific connective tissues are made with the help of fibrillin, to produce elastic fibers, which are essential for connective tissues. The connective tissues are the tissues that provide strength and flexibility to many structures such as the bones, blood vessels, ligaments, muscles, and heart vessels. Connective tissues also allow the body to grow and develop properly. Marfan syndrome occurs when there is a mutation in the gene, specifically what tells

Neurofibromatosis (NF) Type I is a common autosomal dominant genetic disorders. NF Type I has a prevalence rate of approximately 1/3000-4000 individuals. NF Type I is caused mutations in the NFI gene. This gene provides instructions for making the protein neurofibromin. Neurofibromin is produced in many cells, including nerve cells and specialized cells that surround nerves such as, oligodendrocytes and Schwann cells. This protein acts as a tumor suppressor that keeps cells from growing and dividing too rapidly. Mutations in the NFI gene lead to the production of a nonfunctional version of neurofibromin that cannot regulate cell growth and division. Therefore, tumors can form along the nerves throughout the body due to the mutation.

Prognosis of Marfan syndrome: is often based on normal lifespan, it’s lifelong condition require adequate medical attention. This syndrome is a lifelong disorder that has been improved throughout the years.

Marfan syndrome (MFS) is an autosomal dominant disease of the connective tissue, affecting mostly the skeletal, ocular and cardiovascular systems, caused by mutations in the FBN1 gene. (Fernandes et al 2016) It was first described just about 100 years ago and was one of the first conditions classified as a heritable disorder of the connective tissue. MFS lies at one end of a phenotypic spectrum, with people in the general population who have one or another of the features of MFS at the other end, and those with a variety of other conditions in between. (Pyeritz 2000) One in four cases of MFS occur through due to a random mutation the rest are inherited. (Lima et al 2010) Marfan syndrome affects anywhere from 1–2/10,000 individuals and has a large amount of variation in its symptoms and severity. The incredible variability of Marfan syndrome and the lack of identifiable phenotype-genotype correlations point to the occurrence of modifier genes. (Fernandes et al 2016) According to Groth et al. the prevalence of MFS could increase because during their 38 year study they saw a clear rise in prevalence. The age of diagnosis for MFS can range throughout an entire lifetime however the median age of diagnosis is 19 years old. It has the potential to be a life threatening

Marfan syndrome is active in the connective tissue. This tissue is made of a variety of proteins. One of these many kinds of proteins named fibrillin, which is defined by Merriam-Webster as “a large extracellular glycoprotein of connective tissue that is a structural component of micro fibrils associated especially with elastin”(2009). Marfan

On FGFR-1, the mutation is located on chromosome 8p11.2-p11 and FGFR-2 on chromosome 10q26. On the FGFR-1, the mutation on chromosome 8 is marked by a C to G transversion in exon 5, with a proline to arginine substitution in the extracellular domain. In most cases genotyping has shown variable expressivity or different mutations in the same gene. Studies have shown that that Pfeiffer syndrome has been linked to the advanced paternal age of

I enjoyed reading your post on Marfan syndrome (MFS). I concur with your diagnosis of Marfan syndrome for the 15-year old male in case study #4. According to Timble, and Saal (2013); Yip and Sawatzky (2014), Marfan syndrome is a genetic autosomal dominant ailment and multi-organ syndrome of the connective tissue with widespread clinical variations, that distress about 1 in 5000 individuals. Marfan syndrome principal characteristics comprise that of musculoskeletal, cardiovascular and ocular systems and related to its extensive gradation of variation, arrays of the clinical characteristic could exhibit at natal, or evident subsequent in childhood and at maturity (Timble & Saal, 2013).

Since the cloning of the MEFV gene, about 304 sequence variants have been reported that 167 of these variations have been associated with FMF (online at http://fmf.igh.cnrs.fr/ISSAID/infevers). According to studies, four founding mutations, M694V, V726A, M680I, M694I on exon 10 and the E148Q on exon 2 are the most common mutations and comprise 85% of all mutations in the countries where FMF is prevalent (Simon and van der Meer, 2007).

Abstract: Marfan syndrome is a genetic connective tissue disorder caused by mutations in the FBNI1 and other genes such as TGFBR1 and TGFBR2. The syndrome affects the skeletal system, the cardiovascular system, the ocular system, and respiratory systems. Marfan syndrome has a significant mortality rate and it extremely difficult to diagnosis. The syndrome currently does not have a set treatment aside from surgery and though recent technological advancements have decreased the mortality rate, many patients are still dying. Patients suffer a poor quality of life and the demand for a cure is higher than it has ever been.