Rubinstein-Taybi Syndrome (RTS) is a rare condition characterized by, “distinctive facial features, broad and often angulated thumbs and great toes, short stature, and moderate to severe intellectual disability” (Stevens 2002). The syndrome was first described by Jack Herbert Rubinstein and Hooshang Taybi in the American Journal of Diseases of Children. In their initial article describing their findings, Rubinstein and Taybi described seven children, ages three to eight years old, who presented with “a constellation of congenital anomalies,” which they believed to represent a previously undescribed syndrome (Rubinstein and Taybi 1963). Other features associated with RTS, which tend to vary among affected individuals, include eye abnormalities, defects of the heart and kidneys, dental problems, and obesity (“Genetics Home Reference” 2007). While individuals with RTS often develop normally in-utero, they sometimes fail to thrive in the first few months of life as their height, weight, and head circumference percentiles begin rapidly declining (Stevens 2002). Another serious complication for infants with RBS is …show more content…
It is believed that the loss of CREB binding protein’s acetyltransferase activity is what ultimately leads to RTS (Park et al. 2014). The primary models currently used to explain how mutations in the CREBBP and EP300 genes manifest in the phenotypic features associated with RTS are haploinsufficiency and dominant negative inhibition. In other words, researchers found that two functional copies of the CREBBP gene are necessary to produce normally-functioning CREB binding protein (Park et al. 2014). Additionally, the abnormal protein produced as a result of a mutated CREBBP gene inhibits the normally-functioning CREB binding protein in a process known as dominant negative inhibition (Park et al.
Tay-Sachs disease is a rare hereditary disease found mainly in infants but is also found in juveniles and adults. It is caused by the abnormal metabolism of fats and is characterized by mental deterioration, blindness, and paralysis. There is no available treatment for this disease.
Marfan syndrome is an inherited disorder that affects the connective tissue of the body (“What is Marfan Syndrome?” n.d.). The connective tissue plays a vital role in supported the tendons, heart valves, cartilage, blood vessels, and more parts of the body (“Connective Tissue,” n.d.). “What is Marfan Syndrome?” (n.d.) explains that the condition has no cure, and those who have it lack strength in their connective tissue, affecting their bone, eyes, skin, nervous system, and lungs. Furthermore, Marfan syndrome is common, and it is imperative to understand how the body is affected by it, the symptoms, and the treatment of this condition.
Tay-Sachs disease is a rare and fatal genetic disorder that destroys neurons in the brain and spinal cord. The disease appears in three forms, Juvenile Onset, Late Onset (known as LOTS), and the most common form, Infantile (also known as Classic). The differences between the three forms of the disease are related to the age at which the symptoms of the disease begin to form. Tay-Sachs results from a deficiency of the enzyme hexosaminidase A, which plays a vital role in removing a fatty substance, called GM2 gangliosides, from neurons.
Tay-Sachs disease is a neurodegenerative disorder that is known to be genetically inherited. Both children and adults may suffer from this neurological disease, but it is most common in children (Percy, 1999). This disease causes abnormal brain development in individuals who are affected by this disease. This disease is known to get progressively worse, and unfortunately leads to death. Due to the rapid progression of this disease, the life expectancy is no more than five-six years of age due to complications related to the disorder (Percy, 1999).
Receptor tyrosine kinase is a cell membrane receptor system that can trigger multiple cellular responses simultaneously. It requires two receptor tyrosine kinase proteins, which are initially individual polypeptides that each have a signal-binding site, an α helix spanning the cell membrane, and a tail of multiple tyrosines. When signal molecules bind to both proteins they attach through a process called dimerization, forming a dimer. This process activates, or phosphorylates, the ends of the tyrosines, also known as tyrosine-kinase regions. Once the dimer is activated, multiple inactive relay proteins are able to bind to the tyrosine-kinase regions. Each of these proteins trigger a cellul...
...s to interfere with bonding to the receptors. The final possibility uses CNP, which downregulates the activation in MAP kinase pathways in the chondrocytes (4).
The MECP2 gene makes a protein, also called MECP2, believed to play a pivotal role in silencing, turning off or regulating the activity of other genes. The MECP2 mutation (change in the gene) causes the turn-off/regulatory mechanism to fail, allowing other genes to function abnormally(Rett Syndrome - NORD). Rett syndrome is a genetic disorder of developmental failure of brain maturation. This is thought to occur when subsets of neurons and their connections are disrupted during a dynamic phase of brain development. This deviation occurs at the end of pregnancy or in the first few months of life during the critical phases of synapse development. How mutations in MeCP2 lead to Retts is not well understood but is the focus of intense research.
Throughout the world, there are many genetic disorders that are well known to society. For example, Down Syndrome, Colorblindness and Autism are a few that people have knowledge of or know at least a fair amount of information of what those conditions are all about. Genetic conditions such as Jacob Syndrome however are rarely talked about. Even though it’s considered as minor compared to the others, it’s a genetic disorder that should still be known even if it’s just a small amount of info given.
Turner syndrome occurs in approximately one in every 2,000 female births (Overview par. 1). Every one in 2,000 girls born may not seem like a great deal, but adds up to be eventually. No matter how many girls have Turner syndrome, they all face challenges because of the chromosomal disease. The syndrome was first discovered in 1938 when Henry Turner published a book about seven girls who shared unique features. The exceptional features included, “short stature, lack of sexual development, cubitus valgus (arms turning out slightly at the elbow), webbing neck, and a low hairline in the back” (Davenport 3). Not all girls with Turner syndrome face the same exact problems, but a majority of them do. Short stature and non-working ovaries are the characteristics Turner’s guarantees. Turner syndrome is now defined as “a chromosomal condition that alters development in females” (Learning About Turner syndrome par. 1). The condition is not inherited, but is indeed genetic. Although girls with Turner syndrome may be more prone to various health issues, with love, support, and some minor accommodations, they can live their life with positivity and happiness.
Figure 2: Schematic of Twist1 over activation cascade. The WR domain (N-terminus of Twist1) binds to RELA (NF-kB subunit) inducing the upregulation of
"Down syndrome." South African Medical Journal 101.1 (2011): 6. Health Reference Center Academic. Web. 16 Apr. 2014.
The crux of the case at hand is that a woman is in the late stage of her first trimester of pregnancy, and at this point she has newly discovered that the baby she is carrying carries the genetic ailment of Turner’s Syndrome. This is a genetic ailment that the case has described as being very noticeable and symptomatic from the patient who has this disease, but ultimately the women who have this are not likely to suffer from inability to function at a very basic level in life. There seems to not be many social limitations or mental limitations, and for the most part this disease will not revoke their chances of living a good life. From the description of the case, it doesn’t really seem like there is much of a moral dilemma posed to any party.
Girls with this syndrome may have many middle ear infections during childhood; if not treated, these chronic infections could cause hearing loss. Up to the age of about 2 years, growth in height is approximately normal, but then it lags behind that of other girls. Greatly reduced growth in height of a female child should lead to a chromosome test if no diagnosis has already been made. Early diagnosis is very importance in order to be able to give enough correct information to the parents, and gradually to the child herself, so that she has the best possibilities for development. Early diagnosis is also important in case surgical treatment of the congenital heart defect (seen in about 20 per cent of cases) is indicated.
Dwarfism, according to the Greenberg Center, is the result of a genetic condition caused by a new mutation or a genetic change.In 1994, the Center reports that the gene for achondroplasia was found and labeled “fibroblast growth factor receptor 3 (FGFR3).”This discovery of at least one cause of dwarfism was a breakthrough because dwarfs in the past were simply regarded as inexplicable freaks.But now there is biological evidence of a gene, in which,“the mutation, affecting growth, especially in the long bones, occurs early in fetal development” (Kennedy 4).It is from this sort of mutation that two parents of average size can give birth to a dwarf.Trudi’s parents in Stones from the River were of normal height, so her dwarfism ...
There are many different types of dwarfism that researchers have confirmed today, but there still are many genes for dwarfism that remain unidentified.The most common of these known causes is achondroplasia, a bone growth disorder.The Little People Online website states that most dwarfs who suffer from achondroplasia are born to “average-size” parents, and that their birth rate is somewhere between onein26,000-40,000www.lpaonline.org).The main characteristics of this form of dwarfism are normal trunk size with short appendages, irregularly large heads wi...