How To Write A Research Paper On Progeria

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.

. . M, P. (2015, October 27). An Overview of Human Genetic Disorders with Special Reference to African Americans. Retrieved November 16, 2017, from https://www.omicsonline.org/open-access/an-overview-of-human-genetic-disorders-with-special-reference-to-africanamericans-2155-9821-1000e139.php?aid=63273

Hutchinson Gilford Syndrome or otherwise commonly known as Progeria; is a fatal disease. Sadly, death occurs in every case. This disease is a fast spreading disease in the body, it affects the body almost instantaneously.This disease is a rapid aging disorder caused by a LMNA anomaly. This anomaly release progerin, a mutant lamin. The lamin A/C is the official name of the gene more widely known as LMNA. The gene gives out a designated list of tasks to making different proteins called lamins. The infected cells show a decrease in heterochromatin, a increased amount a deoxyribonucleic acid, and cell cycle changes. Hutchinson-Gilford progeria syndrome (HGPS) is an extremely rare hereditary disease that affects the skin, musculoskeletal system, and vasculature. HGPS is characterized by signs of premature aging(Kara N Shah,HGPS, MedScape)

This lack of protein causes deficiencies in the relaying of nerve impulses which then leads to an individual displaying the physical and developmental symptoms specific to this syndrome. Most males and about half of females with a full gene mutation have characteristics such as a narrow face, large ears, a prominent jaw and forehead and unusually flexible fingers, and even flat feet and low muscle tone due to associated problems with connective tissues (National Library of Medicine, 2014). Males tend to have a mild to moderate intellectual disability, while only one-third of affected females are intellectually disabled (National Library of Medicine). Individuals also suffer from behavioral problems that include things such attention-deficit/hyperactivity disorders, obsessive-compulsive fidgeting or impulsive actions, unstable and disproportionate emotional displays, aggressive and self-injurious behavior related to difficult temperament, and features of autism spectrum disorders like hand-flapping and poor eye contact (Hersh & Saul,

Genetic disorder has many diagnostic and common names for example, DMD is also known as Duchenne muscular dystrophy or Becker and pseudohypertrophic muscular dystrophy. DMD is a genetic disease that occurs mostly in boys. According to the “Muscular Dystrophy Association DMD is inherited in an X-linked pattern, because the gene that can carry a DMD-causing mutation is on the X chromosome. The male host inherits an X chromosome from his mother and a Y chromosome from his father, which is what makes him male. The female host inherits two X chromosomes, one from each parent.” (MDM). “The human X chromosome carries regions prone to genomic instability: deletions in the Xp22.31 region, involving the steroid sulfatase gene cause X-linked ichthyosis; rearrangements in the Xp21.2 region are associated with Duchenne or Becker muscular dystrophies (DMD or BMD); and the Xq27.3 unstable region, containing the (CGG) in repeat expansion in the FMR1 gene is associated with fragile X syndrome stated in the article, “A Family with Fragile X Syndrome, Duchenne Muscular Dystrophy and Ichthyosis Transmitted By An Asymptomatic Carrier”(Todorova, A)

The cause of this condition not known. In some cases it may be caused by genes passed down through families.

Jonathan Hutchinson, and in 1897 by Dr. Hastings Gilford.” The cure of progeria is yet to be discovered, because of this it is still in the research phase. “Although they are usually born looking healthy, most children with Progeria begin to display many characteristics of Progeria within the first 2 years of life” (Mayo clinic). Currently progeria is prevalent in all parts of the world, scientists and researchers are currently testing a new drug called Lonafarnib. This drug was originally used to treat cancer, but has proven effective for progeria. “Generally speaking, there is no way to pass this disorder along, since the mutation is spontaneous when it comes to the birth of a child.” (Americanpregnancy.org) This means that there is no big concern with progeria, since it can't be passed through genes and

muscular dystrophies. These can either be born with or you can have the gene for it or not show

Exact cause remains unidentified, however it is believed that the patient’s genes and environment may be contributing factors.

The authors state that the clinical diagnosis for the disease was confirmed by conduction a whole exome sequencing. With this sequencing they were able to detect multiple heterozygous mutations. These mutations were: a missense variation

2. Mutations to RHBDF2 have been linked to the cause of development of this syndrome. This disease is autosomal dominant and will only need one parent to pass on the mutation. They only need one copy of the mutated cell in the genes for it to develop. This disease is characterized by palmoplantar keratoderma and will begin to develop around age ten and then the person will develop cancer after the age of twenty.

have the identified genetic abnormalities that have been seen in a small number of families.

This condition often occurs in individuals between the ages of 25 and 44, and is a result of a number of different factors including genetics, environmental factors,

The most popular person to have hard proteus syndrome is Joseph Carey Merrick, Jesseph Merrick died in 1890 at

Congenital Hypertrichosis Lanuginosa is a genetic disorder that is a change in a person’s X chromosome, #17. This disorder is also referred to as werewolf syndrome, the people affected would be called dog-men, ape-men, and even werewolves. This disorder affects both genders. With this genetic disorder, there are symptoms of excessive hair, the delayed growth of teeth, hearing issues, and very thick eyebrows. Less common symptoms are differences of skin pigmentation. Those affected by this will not grow hair on the soles of their feet or the palms of their hands.