Fibrodyplasia Ossificans Progressiva Essay

Osteopetrosis is a rare, genetic disease that causes extremely dense and brittle bones. This is because individuals affected with osteopetrosis do not have normal osteoclasts, which bones need to work correctly. Healthy bones require properly functioning osteoblasts and osteoclasts. Osteoblasts are responsible for making new bones and osteoclasts are bone cells that are responsible for bone resorption, which is the breaking down of bones and providing space for new bone marrow to grow. An individual with osteopetrosis has osteoclasts that do not function properly, therefore their bones are not healthy (Stocks, Wang, Thompson, Stocks, & Horwitz, 1998).

The FBN1 gene is responsible for providing instructions for the production of fibrillin-1, which is a protein that is secreted into the matrix of connective tissue (“FBN1,” 2015). Therefore, a mutation in this gene can cause the excessive production of fibrillin-1, and when fibrillin-1 binds to other proteins they form threads called microfibrils. Microfibrils contain a growth factor called transforming growth factor beta or TGF-β (“FBN1,” 2015), so when there is an increase of TGF-β, problems with the connective tissue throughout the body can occur (“What is Marfan Syndrome? | The Marfan Foundation,” n.d.), more of these problems will be elaborated upon further in the report. The genetic mutation in the FBN1 gene is usually hereditary, but it is possible for one to be the first in their family to have this genetic mutation. If one has this mutation

Osteogenesis Imperfecta, also known as Brittle Bone Disease, is a disease that effects bones and joints. Osteogenesis Imperfecta is a disease that effects child, and most often children are born with this disease. In some cases the disease may take a couple years to show symptoms, but more often than not the disease is recognized when the child is born. “Osteogenesis Imperfecta is caused by a defect in the gene which produces collagen 1, an important building block of bone” (Osteogenesis). The bones are very fragile, and often times break when touched or moved. The severity of the disease depends on which portion of the gene is affected. If a child is lucky, the disease may only affect a small portion of the gene, which would make the

Fibrodysplasia ossificans progressiva also known as FOP is a one of the rarest, most disabling genetic bone conditions known to medicine. FOP causes muscles, tendons, ligaments, and other connective tissues to turn in to bone. Movement becomes limited in the affected areas of the body. People with FOP typically have malformed toes at birth, meaning the big toe is typically shorter than normal and abnormally turned outward in a position called a valgus deviation. Symptoms of FOP start to show up in early childhood. Most people with FOP develop painful tumor-like swellings also known as fibrous nodules. The fibrous nodules are visible on the neck, shoulders, and back.

Fibroids are becoming more and more common in women in the United States. It is estimated that 171 million women in the U.S. were affected by this condition in 2013(6). About 20% to 80% of women develop fibroids by age 50 (6). As many as three out of four women may have uterine fibroids in her lifetime (4). Fibroids, also known as uterine leiomyoma, are benign tumors that can be found in women of childbearing age due to its dependence on estrogen and progesterone (7). They are made of muscle cells and other tissues that can grow around or in the uterus or womb. With fibroids, a single cell divides repeatedly, eventually creating a firm, rubbery mass distinct from nearby tissue (2). Some fibroids even go through growth spurts where they grow and shrink on their by itself. There are women with fibroids who have no symptoms at all. If they do, it may consist of heavy or painful periods, frequent

Fibrodysplasia ossificans progressiva (FOP) is a disorder in which muscle tissue and connective tissue such as tendons and ligaments are gradually replaced by bone, forming bone outside the skeleton (extra-skeletal or heterotopic bone) that constrains movement. It usually becomes evident during early childhood, always starting with the neck and shoulders and proceeding down the body into the limbs.

Fabry disease is an inherited disorder which is caused from abnormal deposit of globotriaosylceramide, a particular fatty substance, in blood vessel walls throughout the body. Some symptoms that may be noticed are pain in the hands and feet, small red spots normally found between belly and knees, cloudy vision, hearing loss, ringing in the ears, and a decreased ability to sweat. The only FDA approved treatment for this disease is enzyme replacement therapy (ERT). This replaces the enzyme that is not working correctly, which allows the body to break down fatty substances the way it should. This disease is passed down through genes from parents. You either were born without alpha-galactosidase A or it doesn’t perform its duty.

Familial partial lipodystrophy type 6(FPLD6) is an inherited disorder caused by a change in the LIPE gene. Patients typically have pockets of fatty tissue within their abdomen with a loss of fat in their limbs. These patterns of fat distribution together with high levels of insulin and lipids (fatty acids, including cholesterol, that store energy) are used for diagnosis.

There are numerous factors that contribute to the development of this horrible disease, but the most important factor is vitamin D deficiency. When the minerals in osteoid crystallize, they require adequate concentration of calcium and phosphate. When the concentration is not at the correct level, ossification does not proceed normally (Huether & McCance, 2008). Vitamin D regulates the absorption of calcium from the intestine. When there is a lack of vitamin D, the concentration of calcium begins to fall (Huether & McCance, 2008). The body begins to regulate this calcium drop by increases the amount of PTH synthesis and secretion (Huether & McCance, 2008). An increase of PTH causes a clearance of phosphate and without the correct levels of phosphate mineralization of the bones cannot proceed in the correct manor (Huether & McCance, 2008). The abnormality of bone growth can occur in spongy and compact bone (Mayo

The condition is caused by a mutation in the gene that controls the structure of fibrillin-1, a protein that is a vital part of connective tissue. The main purpose of connective tissue is to hold the body together

Fibrodysplasia Ossificans Progressiva, FOP, is a rare and disabling bone disease. It is caused by a genetic mutation of the gene that controls the growth and development of the bones and muscles. The man who discovered this game-changing information is Dr. Kaplan. “The discovery of the mutation immediately suggests an approach to treatment: either to block the renegade proteins or to destroy the message coming from the mutant copy of the gene that creates the renegade proteins, says Kaplan” (Cause of: FOP). Muscle and connective tissues, as well as tendons and ligaments, are gradually ossified, meaning they are replaced by bone. This limits and eventually permanently prohibits movement. FOP usually starts

Achondroplasia is caused by an abnormal gene located on one of the chromosome 4 pair (humans have 23 pairs of chromosomes). It is a result of an autosomal dominant mutation in the fibroblast growth factor receptor gene 3 (FGFR3), which causes an abnormality of cartilage formation. FGFR3 normally has a negative regulatory effect on bone growth. In achondroplasia, the mutated form of the receptor is constitutively active and this leads to severely shortened bones.

On the case of vitamin D, women of African American origin tend to be deficient of this vitamin. According to Donna Day Baird Eds (2017), a research conducted on women aged between 35-49 showed that women of the African-American origin had a higher percent of women with vitamin D deficiency (90%). The National Institute of Environmental Health Sciences Uterine Fibroid Study carried out the study.

This particular disease originates specifically from either a gene alteration, or our inherited genes, which are described as a mutation that targets the skeletal system. Achondroplasia can be inherited

Fibrodysplasia Ossificans Progressiva (FOP) is an incredibly rare disease, affecting one persons per million. First described by Guy Patin in 1692, as a rare disabling disease characterized by a deformation of the great toes. Fibrodysplasia Ossificans Progressiva has been described by many names since its documentation: Munchmeyer’s disease, stone man’s disease, Myositis Ossificans Progressiva (Baidoo 2016). FOP is still often referred to today as stone man’s disease.