What is Marfan Syndrome?
For this genetic disorder assignment, I chose Marfan Syndrome, which is a mutation in your connective tissue. Connective tissue holds our body together by holding the blood where it is suppose to be, the organs in place and keep our tissue in place. This connective tissue also helps you grow in height and go through the stages you need to. The disorder results in abnormally long and thin digits in your genes and also frequently in optical and cardiovascular defects. Our connective tissue is made up of many proteins and the protein that affects Marfan Syndrome would be fibrillin-1, which in this disorder is a defect in the body on how to make this protein. The Transforming Growth Factor Beta (TBF-β) protein takes
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an increase in this disorder which creates the features and conditions for Marfan Syndrome. History: Marfan Syndrome was first established out to the public in 1896 by the French doctor, Antoine Marfan, which the disorder is named after.
Antoine began his medical studies in Toulouse but after two years moved to Paris to graduate from the University of Paris where he became a pediatrician. Antoine’s first patient that he studied on that he believed suffered the connective tissue mutation, was a 5 year old girl named Gabrielle.
What gene or chromosome is affected by this disorder?
The only thing affected by Marfan Syndrome would be the connective tissue that holds our body together. It is caused by the misfolding of fibrillin-1 which is a protein that creates elastic fibers and is a part of cell signaling activity by binding to Transforming Growth Factor Beta.
How is it inherited? What population is affected?
About 3 our 4 people with Marfan Syndrome inherit it from a parent that already carries the mutation. It is said that the condition comes in an autosomal dominant pattern, which means that one copy of the altered gene in each cell is sufficient to cause the disorder. 50 percent is the percentage that the offspring will inherit Marfan Syndrome if one of the parents have it. But at least 25 percent will result from a new mutation in the fibrillin-1 gene, meaning that they will adapt this condition without any ties from their
family. Marfan Syndrome does not affect a specific population; men, women and children can all be accused of the mutation, ethnicity does not play a role in this at all. Around worldwide, about 1 in 5,000 people carry the mutation. What are the symptoms? Marfan Syndrome affects people in different ways and in different seriousness; from less severe to very severe. But as you get older the symptoms will get worse. Skeleton Very tall and thin with loose joints, meaning; arms, legs, fingers and toes will be longer than usual A long and narrow face Crowed teeth because the roof of the mouth is arched A breastbone that caves in or sticks out Flat feet A curved backbone Heart and blood vessels Many to almost all people suffering from the disorder contain conditions with their heart and blood vessels such as; A weak aorta which pumps blood to the rest of our body. So weak, it can tear Heart valves that can leak causing a ‘heart murmur’. Large enough leaks can cause difficulty breathing, fatigue and a very uneven heartbeat 3. Eyes Nearsightedness Glaucome (high pressure in the eyes at a young age) Cataracts (the eye’s lens becomes cloudy) A shift in one or both lenses of the eye A detached retina 4. Skin Stretch marks A hernia which is part of an internal organ that pushes through an opening in the organ’s wall 5. Nervous System The spinal cord is made up of a fluid and a membrane, which is made up of connective tissue. As a person suffering Marfan syndrome as they get older the membrane will stretch and weaken and cause lower back problems, symptoms of this would be: Painful abdomen Painful, weak or numb legs 6. Lungs Stif air sac in the lungs A collapsed lung is air sacs enlarge Snoring or not breathing while sleeping Are there any treatments for the cure? At the current moment there is not a cure that cures the syndrome, but there are activities which you can take a part to help treat certain symptoms: Skeleton Using a back brace or having surgery for serious problems Getting a yearly examination of the breastbone and spine 2. Heart and blood vessels Regular checkups and an echocardiogram Find immediate help if you experience pain in the chest, back or abdomen Wear a medical alert bracelet If you go after a severe problem of your aorta or vessels to go and get surgery to replace the problems 3. Eyes Getting yearly eye exams Wear eyeglasses or contacts if needed Get surgery if needed 4. Lungs Not smoking since it will contribute more to your problem Seeing a doctor if you have troubles breathing while sleeping 5. Nervous System Taking medicine if the pain in your membrane in your spine swells What research is being done for this disorder? Marfan Syndrome is in intense research to find a cure and understand the mutation even more. Points they are studying include: What causes the heart and blood vessel problems The process that leads to skeletal problems Genes linked with Marfan Syndrome Defects in the fibrillin gene How Marfan Syndrome affects connective tissue Why people have different symptoms and severity of the disorder New treatments, medicines, and surgeries to help people with Marfan Syndrome
Fibrodysplasia Ossificans Progressiva affects most part of the skeletal system, mainly jaw, hips, ankles, wrists, keens, elbows, chest, shoulder, spine and neck. Most of these parts of the skeletal system are part of the joints that help with movement and connect bones (Seeley et al., 2008). As consequence, the individual loses the ability to move or not move at all. FOP does not affect cognitive development; an individual with this disorder has the same intelligence as any other individual. However, as I mentioned it before they cannot perform everyday activities and need assistance for almost everything. As the disorder progresses individual start to lose movement of their appendicular and axial skeleton. The new solid bone growth makes it impossible to have flexibility in the joint and limbs. Individual are trapped on their own body.
At younger age sets in and wastes away muscles in multiple parts of the body making life hard for the affected individuals. This wasting starts at the face and continues to the shoulders where it is more severe. But these are not the only effects Infantile facioscapulohumeral muscular dystrophy has on the individual. Infantile facioscapulohumeral muscular dystrophy also has non-muscular effects. A person diagnosed with this disorder will have vision problems, hearing loss and sometimes seizures.
Spinal Muscular Atrophy affects about 8 out of every 100,000 live births and also causes death among more babies than any other genetic disease out there. About one in every forty people has this gene in them but may not have SMA so they are a genetic carrier. But in order for a child to have SMA, both parents have to carry the mutated gene and passed it to the child. Therefore this causes the child to have double copies of the abnormal gene. About 1 in 40 men and 1 in 80 women are carriers of the gene.
Baron Guillaume Dupuytren, French anatomist and military surgeon is best known today for his treatment Dupuytren’s disease. He performed the first corrective surgery in 1831 (“Sticky Finger”).
Cystic fibrosis is one of the most common lethal mutations in humans. The autosomal recessive allele is carried by 1/20 Caucasians, 1/400 couples will have children with the disease, and ¼ children will be afflicted. If untreated, 95% of affected ch ildren will die before age five (Bell, 1996).
Muscular dystrophy (MD) is a genetic disorder that weakens skeletal muscles, the muscles that enable the human body to move. People with muscular dystrophy have missing or incorrect information in their genes, which prevents them from making the proteins they need for healthy muscles. Due to fact that muscular dystrophy is genetic, it is not contagious or contractible from another person; a person must be born with the problem.
Muscular Dystrophy is a genetic disorder in which your muscles drastically weaken over time. Muscles are replaced with “connective tissue,” which is more of a fatty tissue than a muscular one. The connective tissue is the tissue that is commonly found in scars, and that same tissue is incapable of movement. Although Muscular Dystrophy affects muscles in general, other types affect certain groups of muscles, and happen at different periods throughout a lifetime. For example one of the most common types, Duchenne Muscular Dystrophy, targets muscles in the upper thigh and pelvis. The disease is displayed throughout early childhood, usually between ages four and seven. This genetic disorder occurs only in boys. People have difficulty sitting up or standing and lose their ability to walk in their early teens. Sadly most people die by the age of twenty. A second common type, Becker’s Muscular Dystrophy affects the same muscles as Duchenne, but first appears in teenage years. Most people with Becker’s only live into their forties (Fallon 1824-1825).
Lewis, Ricki, (2014), Human Genetics, 11th Edition, Chapter 12. Gene Mutation. [VitalSource Bookshelf Online]. Retrieved from
At the age of 21, his intestinal operation led to appendicitis. Henri was on bed rest for most of 1890 and to help him occupy his time, his mother bought him a set of paints. That was the turning point in Henri’s life. He decided to give up his career in law for a career in art. Matisse himself said, “It was as if I had been called. Henceforth I did not lead my life. It led me” (Getlein 80). Soon after, Henri began to take classes at the Academie Julian to prepare himself for the entrance examination at the Ecole des Beaux-Arts (Essers 7). Henri failed his first attempt, leading to his departure from the Academie. He then enrolled at the Ecole des Arts decoratifs and that is where his friendship with Albert Marquet began. They started working alongside of Gustave Moreau, a distinguished teacher at Ecole des Beaux-Arts, even though they had not been accepted (Essers 12). In 1895, Henri finally passed the Beaux-Arts entrance examination and his pathway to his new career choice had officially begun.
SMA is a genetic disease. It is caused by a missing or mutated gene, the survival motor neuron gene 1 (SMN1). Without the mutation, the gene produces protein, survival motor neuron (SMN) protein. People with this mutated gene have significantly lower amounts of this protein, which in turn causes severe motor neuron problems. “Motor neurons are nerve cells in the spinal cord which send out never fibers to muscles throughout the body.” SMN is a critical protein to motor neuron survival and health. Without this protein nerve cells may shrink and eventually die, resulting in muscle weakness. As children with SMA grow it becomes difficult for their already weak muscles to perform daily activities. As a result their muscles continue to get weak, their bones and spine may continue to change resulting in breathing problems and further loss of function. SMA affects the motor neurons so the brain is never affected (Understanding Spinal Muscular Atrophy). This disease is not as rare as one would think about one in 40 people unknowingly carry this disease (Spinal Muscular Atrophy).
He had wanted to be a research scientist but anti-Semitism forced him to choose a medical career instead and he worked in Vienna as a doctor, specialising in neurological disorders (disorders of the nervous system). He constantly revised and modified his theories right up until his death but much of his psychoanalytic theory was produced between 1900 and 1930.
For almost all types of Albinism both parents or mates must carry an albinism gene in order for their child to have albinism. Because the body has two sets of genes, a person may have normal pigmentation but carry the albinism gene. If a person has one normal gene and one albinism gene that is still enough to pass the disease on to their children. Even if both parents have the albinism gene it does not mean they have the sickness. The baby will have a one out of four chance of getting the disease. This is inherited by autosomal recessive inheritance.
GDF8 in particular is responsible for the growth seen in muscle tissue. Myostatin has been found almost entirely in muscles used for movement such as your skeletal muscles, where it can be found in an active state both before and after birth. This protein has predominantly been known for its restraint of muscle growth, ensuring that muscles do not grow too large. Although myostatin is a fairy new discovery and we don’t know much about it there are a few things that we have learned. The MSTN (myostatin) gene can be found in virtually ever living mammal and is responsible for ensuring that the muscle does not grow to large but there have been some studies found where some have lacked the MSTN gene and have had significantly larger muscles than the average person. The mutation is caused when the gene responsible for making myostatin receives little to no signals or a change in the gene known as IVS1+5G>A, which leads to little or no production of the gene. The minimal production of this protein often leads to the overgrowth of muscle tissue but has not be known to cause any other medical
recognized as a writer. He became one of the most famous and well paid French
His influnces led him to move around Europe, maily Austira, and France to conduct treatments. Franz Mesmer's uncanny theory of animal