bizarre genetic disease that seems to accelerate ageing could hold the key to longer lives for children with progeria.Progeria is an extremely rare, fatal genetic condition which causes babies to age quickly. Progeria was first described in an academic journal by Dr. Jonathan Hutchinson in 1886 and also by Dr. Hasting Gilford in 1897 both man was from England (Nordqvist 1). After discovering the two people they later came up with a new name for Progeria called Hutchinson-Gilford Progeria Syndrome (HGPS). Today in life there 53 cases of Progeria around the world and only 2 in the UK.1 in every 4 to 8 million babies are born with Progeria. Progeria effect all race equal boys and girls.
As newborn, children with Progeria usually appear normal at birth. However, within a year their growth rate slows and they soon are much smaller and weigh less than other children they age. Then later they begin to accelerate aging and some signs of progeria may start. Growth failure, Loss of body, Loss of hair, Skin starts to look aged, Stiffness in the joint, Hip dislocation, Generalized atherosclerosis, and stroke are all symptoms that child with Progeria will have. Children who suffer from Progeria are genetically susceptible to premature, progressive heart disease (Davis 2). Progeria appears to occur without cause and it is not seen in siblings of affected children. Children with Progeria have a surprisingly appearance.
90% of children with Progeria have a mutation on the gene that encodes Lamin A, a protein that holds the nucleus of the cell together (Conley 4). Lamin A protein makes the nucleus stable it leads to the process of premature aging among Progeria patients.
Experts do not believe that Progeria is hereditary. In about 1 in ev...
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...yday because you they never know when they might lose them. Progeria is not usually passed down in family. Children with Progeria often suffer from symptoms typically seen in elderly people (Davis1). People inherit the disease only one copy of the LMNA gene is enough to cause the disease because it is an autosomal dominant gene.
The Progeria Research Foundation was created in 1999. Progeria does have parallels with normal ageing; at least in one key aspect how out blood vessels deteriorate. Researchers found that a drug known as rapamyein slowed and even stopped the disease progression the cells. Progeria only affected newborn babies. Progeria is a very rare disease that no one knows where it comes from. Research today is still haven’t come up with a way to stop the cure for Progeria. Some research found a way to make Progeria patients live longer then the age 13.
Sam Berns or Simpson Gordon Bern’s was born October 23, 1996, and died January 10, 2014.He was born to Dr. Leslie Gordon and Dr. Scott Bern.Who found out that their son Sam has Hutchinson-Gilford Progeria Syndrome. Sam was twenty-two months old then. when
· genetics: occasionally the disease has a tendency to run in certain families (inherited or genetic predisposition), but this is not common.
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.
The main cause of Progeria is a genetic mutation. This disease stems from "a single-nucleotide substitution that leads to aberrant splicing of the LMNA, the gene that encodes for the A-type nuclear lamins."(Kudlow, Kennedy, and Monnat 398) This single-letter misspelling occurs on chromosome 1 of the gene, which codes for lamin A. A point mutation from cytosine to thymine ensues near the end of the LMNA gene, a discovery by the Collins Laboratory. Gly608Gly,the most common mutation, results in "one hundred and fifty nucleotides encoded in exon eleven to be spliced out of the final mRNA and results in a protein that lacks 50 amino acids." (Kudlow, Kennedy, and Monnat 399) Now that the mutation has taken place, the cells begin to synthesize abnormal lamin A proteins known as Progerin. Newly produced Progerin still have the attached farnesyl group engendering the Progerin to connect to the nuclear membrane permanently. Due to thi...
trait. Some cases however are sporadic, and there may not be a link to family
...s exist as an inherited disease in some families. The majority of case studies show that the patients affected have no family history of the disease.
Mutation: Werner Syndrome For most, aging is an enviable part of the life cycle, which often involves a progressive change in physical, cognitive, and psychological aspects. However, individuals diagnosed with Werner syndrome face an escalated biological clock, so to speak. According to Pierce (2013), Werner Syndrome, is an autosomal recessive disease associated with premature aging and early death. The rare hereditary disorder was discovered by the German scientist Otto Werner and affects approximately 1:200,000 births (Kuan, 2016). The following will review Werner syndrome, including accompanying symptoms, specific mutation, discovery or the disease, impact of the mutation, and the potential for genetic technology.
Webster dictionary defines synaesthesia as “a subjective sensation or image of a sense other than the one being stimulated” (Wyld,1963). Synaesthesia is a condition that causes someone to have associations of usually color with certain everyday things, such as numbers or letters. There are several different types of synaesthesia that will be discussed in this paper digit-color synaesthesia, odor-color synaesthesia, and person- and music-color synaesthesia. A common effect that is discussed when talking about synaesthesia is the McCollough effect. This effect is a wonder of humans and their visual perception where colorless gratings appear to have a color.
There are so many types of mental illnesses that affect people every day. When some people think of mental illnesses they think of the ones that would cause people to have physical symptoms as well, but that’s untrue, there are many more that you would never know anyone has if you were to see them on the street. As defined by the 2008 encyclopedia “a mental illness is any disease of the mind or brain that seriously affects a person’s ability or behavior. Symptoms of a mental illness may include extreme moods, such as excessive sadness or anxiety, or a decreased ability to think clearly or remember well.” A mentally ill person has severe symptoms that damage the person’s ability to function in everyday activities and situations. Every nation and every economic level can be affected by a mental illness. In the United States alone about 3% of the population has severe mental illness and to add to that number about 40% of people will experience a type of mental illness at least once in their lives. Some cases of mental illnesses can go away on their own, but some cases are so severe that they require professional treatment. There is so much more available to help people recover from their symptoms than in the past.
There are plenty of symptoms identified with progeria. Children, at birth, appear normal with early integumentary symptoms, comparable to scleroderma. Within the first couple of years, the child’s growth rate demonstrates a noticable decrease. This results in the shortness of stature and extremely low weight. Other symptoms and effects of progeria are delayed or absent formation of teeth, observable veins, baldness, aged-looking and dried skin, and stiffness of joints.
If the parent has a faulty gene, the chance that their child will have disabilities is 50 percent. Because the signs and symptoms often first appear in middle age, some parents may not even know they carry the gene until they have children growing up. If the child does not inherit from the defective gene then they will not pass down the Huntington’s disease to the next generation. In 2006, researchers discovered the protein expressed by the Huntington gene interacts with other proteins as cholesterol accumulates in the brain. Ask about changing any emotional or intellectual habits.
Enter here 11Every four and a half minute a baby is born with a birth defect. Birth defects are structural changes present at birth and can affect nearly any part of the baby’s body. How harm fall a birth defect is often is determined by what part of the body is affected. The life span of the child can be effected determined by what part of the baby was affected. They can occur as bodily changes and as internal damages. They can happen at any time of the pregnancy but occur most often in the first three months as the babies organs are forming. The causes for many birth defects are unknown, but if someone else in the family was born with them then there is a higher risk. As genetics have been linked to some birth defects. Having the ability
The classic form, more severe, can be detected at birth with proper screenings.. Some forms of this disorder cause problems with growth and development in childrenm can also be be life-threatening.
There are signs that people with PWS will have. (Staff, 2014) As an infant the child will have hypotonia, which means their muscles are floppy and they have poor tone. (Prader-Willi Syndrome). A child will also have different facial features: almond shaped eyes, narrowing head, and a curved down mouth. Because of the poor muscles, the child will have difficulty sucking and will gain weight very slowly. In addition, the child’s eyes will not be coordinated, one may wonder off to the side while the other is focused ahead. The child will also have slow receptiveness: whether it is something stimulating or waking up, the infant will respond
Mental health refers to the state of individuals psychologically, emotionally and socially. Mental health affects a person’s emotions, feelings, thoughts, and sections when exposed to different situations. Furthermore, mental health is responsible for a person’s reaction to stress and other social conditions. Generally, mental health affects how a person relates to others and their ability to understand and interact with them. Therefore, problems that affect a person’s mental health affect the abilities to socialize, their feelings, moods, reaction to situations. The person experiencing mental health problem may portray different behaviors when confronted with different issues. Mental health issues have several