Kaylee Laub
Von Hippel-Lindau Syndrome
Disease Overview Von Hippel-Lindau (VHL) syndrome is a rare autosomal dominant genetic disorder that occurs in about 1 in every 35,000 births (Mahon, Suzanne M., 2012). The first reports on VHL syndrome were published in medical literature about a century ago where Treacher Collins and Eugene von Hippel were the first to describe families that had blood-vessel tumor development in the retina (Kaelin, William G., 2002). Later on Arvind Lindau, a neuropathologist, reported that these patients were also at high risk of developing tumors in the brain and spinal cord, which is now known as haemangioblastoma (Kaelin, William G., 2002). VHL syndrome is characterized by the formation tumors, both benign and malignant, and cysts that develop at
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Studies on the VHL gene product, pVHL, have helped clarify cellular responses with changing oxygen availability in mammalian cells, which in turn has helped our understanding on how this product plays a role in heart attacks, cancer, and strokes (Kaelin, William G., 2002). The pVHL protein is primarily located in the cytoplasm, but it has the capability of moving between the cytoplasm and the nucleus. pVHL regulates two types of hypoxia-inducible transcription factors (HIF1 and HIF2) that functions in cellular response to oxygen deficiency (Vaganovs, P., et al., 2013). HIF is a helix-loop-helix transcription factor that consists of two subunits (HIFα and HIFβ) that regulate cellular responses when there is an inadequate supply of oxygen, otherwise referred to as hypoxia (Kim, Jenny J., 2010). HIFβ is continuously produced unlike HIFα, which is highly regulated through ubiquitination by pVHL (Kim, Jenny J., 2010). pVHL also plays an important role in ubiquitination or protein degradation of key proteins within the cell (Kim, Jenny J.,
Ehlers Danlos Syndrome Ehlers-Danlos syndrome (EDS) is a rare inherited group of connective tissue disorders characterized by defects of the major structural protein in the body (collagen). Collagen is a tough fibrous protein that plays an essential role in binding, holding together, strengthening, and providing elasticity to bodily cells and tissues. There are six major types of EDS that I will discuss, however I will only go into a detailed discussion on two of the six types of EDS. The two major types of EDS are Classical EDS and Hypermobile EDS. These two types make up 90% of all EDS cases.
Nitric oxide is a gaseous, diatomic molecule that plays an important role as a mediator of cardiac function, working largely as a vasodilator in the cardiovascular system. Nitric oxide is synthesized by a family of enzymes known as nitric oxide synthases (...
First and foremost, Eisenmenger syndrome was initially described in 1897 when German physician, Victor Eisenmenger, reported on a patient with symptoms of dyspnea and cyanosis from infancy that subsequently developed heart failure (Connolly, 2014). The postmortem description was revealed and a ventricular septal defect was discovered (El-Chami et al., 2014a). With that being said, this had been the first time that the link between a large congenital cardiac shunt defect and the development of pulmonary hypertension had ever been noted (El-Chami et al., 2014b). The normal heart has four chambers. The two upper chambers are separated from each other by the atrial septum (NORD, 2014a). The two lower chambers are known as ventricles and are separated from each other by the ventricular septum (NORD, 2014b).
Jackson-Weiss Syndrome is a rare genetic disorder characterized by distinctive malformations of the head and facial area and abnormalities of the feet. The syndrome is very rare for people to get because it happens through genetics which has mutations in the FGFR2 gene that causes the syndrome. Jackson-Weiss Syndrome is a very interesting diagnosis that is inherited, has different features, and surgical procedures.
Eisenmenger Syndrome (ES) is a heart defect that was first giving the name in 1897 (Fukushima, 2015). This syndrome happens when the birth defect is not treated before the lungs’ arteries become damaged. Eisenmenger Syndrome is named after Victor Eisenmenger a man who had a patient who showed symptoms such as, breathing complications and skin that was turning a bluish color. The autopsy of this patient lead him to discover a ventricular septal defect [VSD] (El-Chami, 2014), that causes a hole in the wall on the right and left ventricular. This is the defect that begins when signaling for pulmonary artery hypertension, which progresses into more advanced stages of ES. This birth defect eventually causes patients to have various
Paget’s disease (PD), also known as osteitis deformans, is considered to be an osteometabolic disorder. It can be described as a focal disorder of accelerated and disorganized skeletal remodeling that may affect multiple bones in the body, giving rise to progressive enlargement and deformity of the bones and joints.1 PD is prevalent across both the sexes with incidence ranging from 1.5% to 8%.2 It is more common in individuals over 50 years of age.
Duane Syndrome is an inherited unusual type of strabismus (squint) most often described by the incapability of the eye(s) to move inwards, outwards individually or together. This was first reported via ophthalmologists Jakob Stilling in 1887 and also Siegmund Türk in 1896. The syndrome was named after Alexander Duane, who explained the disorder more specifically in 1905. The syndrome is described as a miswiring of the eye muscles, causing eye muscles to tighten when they don’t need to and other eye muscles not to tighten when they need to. Very often patients get the syndrome by the age of 10 and it is more common in females (60% of the cases) than males (40% of the cases). Although the eye is usually the abnormality associated with Duane Syndrome, there are other bodily functions that can be affected. Duane syndrome cannot be cured, because the cranial nerve is missing and it cannot be replaced. The gene known as “SALL4” has been associated as a cause of this condition.
Scientist have been researching cellular respiration “They discovered that when Stat 3 protein was missing, cells consumed less oxygen and produced less ATP, the key molecular form of cellular energy,” which means that the ene...
“NINDS Brain and Spinal Tumors Information Page.” Brain and Spinal Tumors Information Page: National Institute of Neurological Disorders and stroke (NINDS N.P., 10, Feb. 2005. Web. 15 Apr. 2014.
Hutchinson-Gilford Progeria Syndrome other wise known as “Progeria”, or “HGPS”, is a very rare, and fatal genetic disorder characterized by an appearance of accelerated aging in young children. The rate of aging is accelerated up to seven times that of a normal life span in first 13 years of life. Progeria comes from the Greek word (πρό), “pro” meaning premature and (γῆρας), “gerias” meaning old age. While there are different forms of Progeria, the most sever form of progeria is formally known as Hutchinson-Gilford Progeria Syndrome, which was named after the doctors in England: in 1886 by Dr. Jonathan Hutchinson who described the syndrome, and by Dr. Hastings Gilford who independently discovered it in 1904 (Jameson).
It is noteworthy to mention that there are numerous diseases associated with rapid ageing and progeria like symptoms. Cockayne, Lison, Werner’s, and Wiedemann-Rautenstrauch Syndromes are amongst these diseases. The shortened term progeria can be used to address any of these disorders but is most often specifically associated with HGPS. This distinct disease was named after Jonathan Hutchinson and Hastings Gilford who each independently described it in 1886 and 1897 respectively. Thankfully, this alarming syndrome is so rare that it only affects about 1 in every 4 million children born.
Oxygen is an essential component for cellular metabolic processes. As a result of normal cellular metabolism, oxidative products i.e. oxygen free radicals or reactive oxygen species are produced. In eukaryotic cells energy is generated in mitochondria as a result of aerobic respiration and this oxidative metabolism is responsible for formation of various compounds. Nearly all of these compounds are advantageous but a small proportion could be lethal if produced in higher concentration. During normal conditions small quantities of oxidative products are necessary for certain sub cellular events, including enzyme activation, formation of disulfide bond during the folding of new proteins, signal transduction and gene expression etc. (Yu etal., 2002; Droge, 2002). Oxidative stress can be defined as the excessive production of ROS which are not adequately removed from the body, because of reduced antioxidant defense system or the ROS increases beyond the capacity of antioxidants. The balance between oxidants and antioxidants is vital because oxidative stress can cause oxidative damages to N.A, lipids and proteins. The most important ROS are superoxide anion (O2−), singlet oxygen (O2), hydrogen peroxide (H2O2) and highly reactive hydroxyl radical (OH-). Whereas, antioxidant defense system is responsible to give protection against ROS. These antioxidants can scavenge and destroy ROS. The major antioxidant enzymes are catalase (CAT), superoxide dismutase (SOD) PON ….. and glutathione system (Sies, 1985; Valko et al., 2007; Halliwell and Gutteridge, 1990).
There's a disease that lurks among young children even to this day. It's a direct result of a mutation in the genes that could result in the removal of the eye. Both boys and girls are affected, and one in every fifteen to thirty thousand babies is infected every year (Ambramson, Ch1). This eye corrupting, chromosomal abnormality shows up in about 300-350 new cases each year. It is called retinoblastoma.
As an inducer of HIF-1 production, it’s been used to study the apoptotic effects in HepG2 cells.
Cardiofaciocutaneous syndrome is a very rare and serious genetic disorder that generally affects the heart, facial features, and skin of an individual. It is caused by a desultory gene mutation, which takes place in one of four genes. Those genes are known as BRAF, MEK1, MEK2, and KRAS. From research, it is also suspected there is a possibility that other genes are associated with the rare condition. This disorder holds multiple alternative names, a long history, obvious symptoms, extensive amounts of interesting data, and is lucky enough to be supported by numerous organizations that will stop at nothing to help.