Werner Syndrome: A Genetic Analysis

Waardenburg Syndrome is a group of genetic conditions that can lead to hearing loss and changes in the color of hair, skin, and eyes (Genetics 2013). Cases of Waardenburg Syndrome are not very common. There are different types of symptoms of the syndrome. Waardenburg Syndrome can be inherited either on an autosomal dominant pattern or autosomal recessive pattern (Calendar 2013). The ways of diagnosing Waardenburg Syndrome include certain tests to detect the disorder. While Waardenburg Syndrome cannot be cured, treatments can be given to lessen the effects. Like other diseases, Waardenburg Syndrome has certain symptoms, inheritance patterns, diagnosis and treatments.

In the beginning of the second year, and last half of the first year the children will stop growing and gaining weight which is accompanied by the hair loss. Between the ages of two and three year the classic facial feature of the Progeria begin to show (Hennekam, 2006 pp. 2603-2624).

Progeria is one of the least known genetic disorders. There are two types of Progeria, the only difference being the age group that it affects. The Hutchinson-Gilford Progeria Syndrome is commonly called Childhood Progeria. The second type of Progeria is Werner’s Syndrome, which is the adult form of Progeria. What basically happens in this disorder is that age is accelerated seven times faster than that of a normal person. For example, for Hutchinson-Gilford Progeria Syndrome, a child could look like he is fifty when he is actually five years old. A twenty year old with Werner’s Syndrome could look similar to a sixty or seventy year old person. There is, even now, not much information known about this genetic disorder because

     Progeria is an autosomal recessive disease, which means it is not carried on a sex chromosome. Hutchison-Gilford Progeria is caused by a mutation in Lamin A. Lamin A is a fibrous protein involved in the structure of the nuclear membrane. When there is a mutation in Lamin A it is likely the nucleus loses its normal shape and therefore its function is compromised. As of now, it is known that this is the cause of Progeria itself; however, neither doctors nor scientist can determine what this mutation has to do with the aging-like deformities of Progeria (Kugler).

Hutchinson-Gilford Progeria syndrome, also known as HGPS, or Progeria, is a very rare genetic disease caused by a mutation in the cell. In 1886, Jonathan Hutchinson first reported case of a 3 ½ year old boy who had the appearance of an old man. In 1897 Hastings Gilford reported a second case with similar features. However, this mystery disease didn’t have a name until 1904, when it was named after the two men. People who have HGPS usually star showing symptoms by the age of 2, and only live to be a teen-mid-20s.

How is it possible for a child to be born looking healthy to then rapidly age and die at an early age? Progeria, a genetic disease, is the answer. This rare disease causes premature aging and is fatal. By looking at the symptoms, the genetic cause, the research for a cure, and what you can do it, is possible to understand progeria.

Usher syndrome is a genetic disorder that causes its victims to get retnis pigmentosa (RP), or a disease that affects someone’s retinas resulting in tunnel vision, and hearing loss. The most common gene that becomes mutated is gene USH2A, this is a protein producing gene. It is a mutated recessive gene, meaning that in order to inherit Usher syndrome both parents have to be carriers of it. Once the child gets Usher syndrome, they will experience loss of eyesight and hearing.

Some ways to detect Progeria are genetic tests of the patient’s blood and clinical exams. Furthermore, the major signs begin developing when the child is around eighteen to twenty-four months old and he will experience accelerated aging even though he was born looking normal. One major symptom is hair loss. Patients are born with hair texture and color, but around six months to two years, the hair begins to fall out. Then, from two to three years, they are usually bald, but might have some thin, light hair. Loss of eyelashes and eyebrows are also experienced. Along with hair loss, these children grow slowly resulting in a shrunken physique and minimal weight gain. For males, their approximate height and weight are 40 inches and 25 pounds; but females are about 32 inches and 20 pounds. In When Good Things Happen to Bad People, doctors have stated these kids will "grow to be very short," and "would never grow much beyond three feet."( Kusher 1-2) Moreover, there are distinctive physical traits in the face and body. "By the second year of life, there is also under development (hypoplasia) of the facial bones and the lower jaw." ("Hutchinson-Gilford Progeria") Also, "the face appears disproportionately small in comparison to the head, and bones of the front and the sides of the skull (cranium) are unusually prominent." ("Hutchinson-Gilford Progeria") Some other characteristics observed in the face are a thin

This syndrome is from a mutation of a gene on chromosome 15 and this causes problems in the production of fibrillin-1 which is a protein that is an important part of connective tissue. The name for the gene is FBN1. Basically, it is the “glue” that helps to support the tissues in the human body. A child born to a parent with this syndrome has a 50% of having it. However, in the remaining 25%, neither parent has the disease which gives them a 1 in 10,000 chance of having a child with this disorder. When a child of two unaffected parents is born with it then the genetic mutation occurs in either the egg or sperm cell at the time of conception.

The P1 cross was between four wmf females and nine wild-type males. The F1 progeny consisted of 12 wild-type females, and four triple-mutant males. The P2 cross resulted in 13 females, and 3 males, all with the wild-type phenotype (Table 1). The two parental crosses identify that the mutations are X-link recessive. The triple-mutant females of the P1 cross produce mutant male offspring, but wild-type females. The F1 females would be heterozygous for the mutations, but don’t express the mutations because they still have a wild-type X chromosome. However, the F1 males only have one X chromosome that comes from a mutant mother. The offspring for P1 were crossed again to make and F1 cross. The F1 cross would be X+/Y and X+/X. The F1 cross resulted in 100 F2 progenies over the course of 7 days.

Schindler disease type III is intermediate in severity between types I and II. Affected individuals

A permanent change in a gene that can be passed on to children. The rare, early-onset familial

In contemporary America, the media is known for routinely showing images of the ‘normal’ body of the so-called ‘regular’ people, and those interpretations are disseminated all over society. Not only does the popular media impose those idea repeatedly, they consistently display women and men as products to be sold. There are some who shamed those for even displaying such bodies to begin with like the disabled woman, Jes Sachse, a twenty-five year old Canadian who garnered attention by mirroring American Apparel ads of beautiful, but racy images of other women. The difference between her and those women is her genetic disorder called Freeman-Sheldon syndrome, which is a condition that deforms areas such as the face, hands, and feet. She ultimately gained popularity,

Now that scientists know that progeria is usually caused by a change of one letter in the billions of letters in DNA, that change can be seen using a genetic testing. During the genetic sequencing, the gene is “decoded” and its sequence is determined letter by letter (www.progeriaresearch.org). With only sixty-eight people reported in the world with this disease, progeria is caused by a change in the DNA in the gene called LMNA. The LMNA gene produces a protein called Lamin A, which structure holds the nucleus of a cell together. Researchers came to the belief that with the defective Lamin A protein, it makes the nucleus unstable leading to the rapid aging.

There are many genetic disorders. Some of them are well known, such as Down syndrome and Albinism. Although one of the most unheard of genetic disorder is Hutchinson-Gilford Progeria. Many people don’t have a clue what that is. Keep reading to find out about one of the rarest genetic disorders in the world.