Genetic Disorders: Fragile X Syndrome

A) Similarities between the symptoms of Tay-Sachs and Fragile X as well as the treatments or interventions.

Last night, in sleepy hollow Ichabod Crane vanished, There is evidence to suggest Brom Van Brunt is to blame.

Cootie believed that Henrietta’s cancer was brought to her by a voodoo. In addition, he believed that the doctors at Hopkins had a large role in her death. Also, Cootie is from a very small town called Clover. Basically, Cootie is fairly uneducated and wouldn’t understand much of the

Fragile X Syndrome is a genetic condition. FXS causes learning and behavioral challenges, intellectual disability as well as a variety of physical characteristics. Although Fragile X Syndrome can occur in males and females, males are affected more frequently than females are; furthermore, males with FXS generally experience characteristics with a greater severity than females with the condition do.

Down syndrome is a genetic disorder that numerous individuals around the world suffer from; it is an intellectual disability that is caused by having one too many chromosome 21 copies, trisomy 21. The average person has two copies of chromosome 21 in each cell, whereas, an individual with Down syndrome has an extra copy of chromosome 21. This happens when either the sperm or egg cell undergoes atypical cell division during development. In the United States, there are approximately 400,000 individuals who have been diagnosed with Down syndrome, according to the last census in 2012 (National Down Syndrome Society).

“It’s down to seven seconds. You see the time…Whittenburg…. Oh it’s a long ways, Oh he’s there! They won it…on a dunk!” Billy Packer said this when covering the historical run by the NC State Wolfpack to win the Division 1 NCAA tournament in a dramatic fashion. A team with no chance of making the tournament, let alone winning the championship, does the impossible and wins the NCAA Division 1 championship. Despite NC State being a smaller school compared to the big basketball powerhouses like Virginia, UNC, Houston and many others, they had players work and will their way to the finish line. If players were paid, you wouldn’t see players like Michael Jordan, Hakeem Olajuwon, or Ralph Sampson on different teams. It would be the college with the most money, could pay the best student-athletes, the most money and Cinderella stories for the most part would disappear. Dynasties of college sports would be made. Money would ruin college sports more than it already has. It has already stripped championships, ruined players images and futures, and tarnished reputations of colleges. The Fab 5, the near “3-Pete” for Oklahoma University, and the USC Trojans football team scandal, are just a few instances where college sports were affected wrongly by the idea of “play for pay.” Colleges and Universities should not pay students to participate in college sports because of all the benefits the athletes receive, the fact that the colleges wouldn’t be able to pay for other

Five other gene disorder that contributes to autism are (1) "EN2 (Engrailed 2) involved in cerebellum development. (2) GABR (Gamma Amino Butyric Acid Receptor) regulates brain cell migration. (3) OXTR (Oxytocin Receptor) participating in the response to stress and social skills. (4) RELN (Reelin) involved in neuronal migration in the developing brain. (5) SLC6A4, a serotonin transporter gene” (Johnson, Giarelli, Lewis, & Rice, 2013). As a result of all the researches done several chromosomal loci have been shown to be linked to Autistic Spectrum disorder including those at 2q24-2q31, 7q22-7q31, 7q34-7q36, and 17q11-17q21. Structural chromosomal changes involving deletions and duplication at 7q11, 15q11-15q13, 17p11.2, 22q11.2, and 22q13 have also been associated with forms of autism. However, the most common chromosomal abnormalities currently associated with autism include the fragile X mutation, other sex chromosome abnormalities, and abnormalities of 15q11-q13. “Evidence has shown that duplications of 15q11–q13 have led to higher risks of Autism Spectrum Disorder and developmental and cognitive deficits” (Flashner, Russo, Boileau, Leong, & Gallicano, 2013). Chromosome 15q11-q13.1 region is subject to genomic imprinting, which is an epigenetic process that results in monoallelic gene expression. Duplications lead to autism and are usually maternal in origin. Deletion of the maternal allele of chromosome 15q11-q13 cause Angelman syndrome (AS) a neurodevelopmental disorder

Cystic Fibrosis (CF) is a common genetic disorder that affects the exocrine gland in the lungs, liver, pancreas, and intestines causing progressive disability due to multisystem failure. It is also known as “mucoviscidosis because of the mucus that builds up and blocks the respiratory system and pancreas”(Bedwell). Cystic Fibrosis affects the cells that produce mucus, sweat, and digestive juices. It causes these fluids to become thick and sticky. With them becoming so thick and sticky they can plug up tubes, duct, and passageways. Unfortunately, there is no real cure for Cystic Fibrosis. “Although, the new developments in treatment and management, the 50 percent survival rate from the 1970’s has greatly improved, allowing patients to continue to live their lives longer than ever expected in the past. New developments in prevention of exacerbations, therapy drugs and methods to preserve

Tay Sachs Disease is an inherited disorder that kills nerve cells in the brain, and also in the spinal cord. A couple of things that could cause this mutation is a missing enzyme. This is an enzyme called ganglioside, that is a fatty substance. Another reason why tay sachs could appear is a change in chromosomes. This is chromosome number 15. The gene is the HEXA gene, or hexosaminidase A. This is a recessive disorder that you can only inherit if both parents have tay sachs. Some symptoms to know if you have this disease is weakened muscles, startling of loud noises, seizures, hearing loss, blindness, and paralysis. If you’re an infant and you have tay sachs disease, you will start to gain abilities, like crawling, but then start to lose them.

Marfan syndrome is a genetic disorder that affects the body’s connective tissue that holds all of the body’s cells, organs and tissue together. Connective tissue plays an important role in helping the body grow and develop properly throughout a lifetime. Marfan syndrome primarily affects the proteins in the connective tissue all over the body. The primary protein that plays a role in Marfan syndrome is called fibrillin-1. A defect in the gene causes poor binding of fibrillin-1 to other proteins in the body, most commonly the protein named Transforming Growth Factor Beta, or TGF-β. The excess TGF-β protein accumulates in the lungs, heart, heart valves, and aorta. Once the structure of these organs are affected, their functioning

There are two types of diseases, infectious and genetic. Unlike infectious diseases that are caused by organisms such as bacteria, genetic disorders are caused by mutations in an organism’s DNA. Cystic Fibrosis is a genetic disorder that is recessive autosomal and causes the creation of thick and sticky mucus. Because the disorder is recessive there must be two recessive alleles present for the trait to be expressed. Whereas in dominant disorders only one dominant allele needs to be present to express a disorder. For there to be two recessive alleles, both of the parents must be homozygous recessive or heterozygous for the offspring to express the recessive trait. If the offspring is heterozygous they will become carriers of the disorder and

Muscular dystrophy (MD) is a genetic disorder caused by incorrect or missing genetic information that leads to the gradual weakening of the muscle cells. Various causes lead to weak and deteriorating muscles depending on the type of muscular dystrophy the patient was affected by. However, there are many causes for muscular dystrophy due to the fact that there are thirty forms of muscular dystrophy, which are categorized under several categories. All are ultimately caused by autosomal recessive, autosomal dominant, sex-linked, and random mutations in very rare cases.

Fragile X Syndrome was identified in the year 1991. This disability affects more males than females. Approximately 1 in 4,000 males are affected, however only 1 in 8,000 females are affected (Lombroso, 2003). Fragile X generates in the FMR1 gene. Fragile X is caused by an excessively repeating tri-nucleotide,

The Fragile X Syndrome is a mutation in the gene Fragile X. This usually means that the X chromosome of the child appears to be pinched when looked at under a microscope (Akshoomoff, Pierce, & Courchesne, 2002). This simple pinched mutation causes the child to not develop how you would expect the chromosome to normally develop. Of course when something does not develop correctly there will be complications and issues. Researchers have noticed that many children with Fragile X Syndrome and autism seem to have similar symptoms, especially when it comes to their social development. This is why they originally thought that Fragile X Syndrome and autism were connected. This is why sometimes most children are only thought to have ASD or Fragile X

Fragile X Syndrome affects the X chromosome, genes and DNA. It affects the X chromosome by a locus as seen in figure 2 below. A clear comparison can be made between a normal X chromosome and a Fragile X affected X chromosome. The genes and DNA are affected by a section of nucleotides in which the triplet CGG nucleotide sequence is repeated. If the triplet is repeated over 200 times in a person, then they are most likely to suffer from fragile X Syndrome as seen in table 1.