A deletion of genetic material in the part of the X chromosome called Xp22 causes microphthalmia with linear skin defects syndrome. This region has a gene called HCCS, which carries instructions for producing an enzyme called holocytochrome c-type synthase. This enzyme helps produce a molecule called cytochrome c. Cytochrome c is involved in oxidative phosphorylation. That is when mitochondria create adenosine triphosphate (ATP), the cell's energy source. It also contributes to apoptosis. A deletion of genetic material that includes the HCCS gene prevents the production of the holocytochrome c-type synthase enzyme. Since females have two X chromosomes, some cells produce a normal amount of the enzyme and other cells produce none. The resulting
Cyanosis is a disorder which causes “bluish discoloration” to the skin, specifically around the mucus membranes or nail beds. There are two types of Cyanosis disorders, depending on where the cyanotic discoloration is occurring. For example, if the cyanotic discoloration is occurring around the nasal or oral tissue membranes, this type of cyanosis would be described as Central Cyanosis. In the same matter, if the bluish discoloration is occurring in extremities such as toes or fingers, it would be called peripheral cyanosis (acrocyanosis). Both of these types of cyanosis disorders derive from problems in hemoglobin oxygen intake, however the body reacts differently towards central cyanosis as opposed to peripheral cyanosis.
Cushing’s syndrome is defined as the hypersecretion of a class of steroid hormones known as corticosteroids such as cortisol. These substances, which are involved in anti-inflammatory and metabolic activities, are secreted by the cortex of the adrenal glands. The two triangle-shaped, suprarenal glands are composed of two layers; the outer portion is the adrenal cortex and the inner region is the adrenal medulla. The adrenal cortex is signaled to secrete corticosteroids in response to the hormone, adrenocorticotrohpic hormone (ACTH), released by the pituitary gland, which is first signaled by corticotropin-releasing hormone (CTH) originating in the hypothalamus. In view of this pathway, Cushing’s syndrome may be the result of dysfunction in several areas of the body.
Because Williams Syndrome is very uncommon within a large crowd among people, the causes that are known to trigger the disorder are very few. The causes or conditions that are known to trigger Williams Syndrome is by the deletion of twenty-six to twenty-eight genes on chromosome #7. Many people may conclude that just because Williams Syndrome is a “genetic” disorder meaning that it has to be inherited from their parents are incorrect. Most people may not inherit Williams syndrome because the chances of his or her child to inherit the syndrome is a low 50/50 chance. That is because when the deletion of the 26 – 28 genes that takes place within the chromosome number seven are of what randomly chosen events that particularly occur in the male or female eggs or sperm .When dealing with Williams syndrome many symptoms may come upon the person with this disorder. Some of the symptoms may be not be that eye catching or life threating but some, however some can be life threating. In resulting the person to ...
Cushing syndrome may affect anyone at any age. It develops when the body either produces too much of a certain hormone called cortisol or the patient might be receiving too much cortisol through corticosteroid hormone therapy. When a person receives too much cortisol, it’s diagnosed as hypercortisolism. This can lead to an interference in the production of other hormones from the other glands, not just the adrenal glands. If left untreated, Cushing syndrome may lead to Cushing’s disease. Many patients develop “moon face” or a “hump back”, along with many other symptoms, if this disease is left untreated for too long.
This genetic disorder is not specific to a certain age, ethnic group, or gender; theref...
This disease is caused by a defective gene and was discovered in the 1930's. Scientists are
Vitamin C, also known as Ascorbic Acid, has the structural formula C6H8O6. Vitamin C is an essential nutrient believed to have very important benefits to the human body and it enables the body to make efficient use of carbohydrates, fats, and protein. It is needed by the body to repair bones, teeth, and cartilage; heal wounds and scars; help the body absorb iron from certain substances, and promote a healthy immune system. Vitamin C is also needed to form collagen, which is a protein used to make skin tissue, blood vessels, ligaments, and tendons. Vitamin C is an antioxidant, meaning it protects the body’s cells against oxidation and the destructive effects of free radicals within the body. It is also believed that vitamin C helps to prevent
NIH, National Center for Biotechnology Information. (2015). Cyclothymic Disorder, ncbi.nlm.nih.gov Web. 22 July 2015. http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002517
Alpha thalassemia is a blood disorder that reduces the production of hemoglobin, which is the protein in red blood cells responsible for carrying oxygen throughout the body. Those affected experience a shortage of efficient oxygen-carrying red blood cells, causing anemia, and manifesting in the observable signs of: pale skin, weakness, fatigue, or serious complications when coupled with other illnesses. Thalassemia is a blood disorder passed down through families (since it is inherited siblings may share this disease) in which the body makes an abnormal form of hemoglobin, resulting in excessive destruction of red blood cells and diminishing the affected person’s normal, healthy red blood cells. Damage to the body is caused by either a genetic mutation or a deletion of HBA1 and HBA2 genes. Because each person inherits two alpha-globin alleles from each parent, when both parents are missing at least one alpha-globin allele, the child is at risk of having Hb Bart syndrome, HbH disease, or alpha thalassemia depending on the number of missing working alleles. Involving the genes HBA1 and HBA2, alpha-thalassemia is due to impaired production of either 1, 2, 3, or 4 alpha globin chains, leading to an excess of beta globin chains. There are four copies of the gene instructing the body to make alpha globin; the more functioning genes a person has, the more alpha globin is made, whereas the number of non-working genes determines what type of alpha thalassemia a person has since when one or more of the alpha globin genes is not working properly, less alpha globin is made. There exist different types of alpha thalassemia: having three normal alpha genes results in a silent carrier state; two normal alpha genes results in mic...
Cyclothymic disorder, also known as cyclothymia, is a relatively mild form of bipolar II disorder characterized by mood swings that may appear to be almost within the normal range of emotions. These mood swings range from mild depression, or dysthymia, to mania of low intensity, or hypomania. It is possible for cyclothymia to go undiagnosed, and for individuals with the disorder to be unaware that they have a treatable disease. Individuals with cyclothymia may experience episodes of low-level depression, known as dysthymia; periods of intense energy, creativity, and/or irritability, known as hypomania; or they may alternate between both mood states. Like other bipolar disorders, cyclothymia is a chronic illness characterized by mood swings that can occur as often as every day and last for several days, weeks, months, or as long as two years. Individuals with this disorder are never free of symptoms of either hypomania or mild depression for more than two months at a time (Encyclopedia of Mental Disorders).
Since the gene for HD is dominant, there is a 50% chance of a sufferer's
Polycystic Kidney Disease, also known as PKD, is a common inherited gene disorder that causes the growth of cysts in the tissues of both the kidneys. The kidneys are a major organ in the excretory system; they remove wastes from the blood and form of urine. They filter the blood, keeping it clean of all wastes and have a number of other functions as well. Due to the growth of cysts on the kidneys it makes it hard to carry out these functions and the will eventually cause the kidneys to fail. This paper will discuss what PKD is, the many symptoms and treatments of PKD, and recent developments in research of this disease.
Galactosemia is a genetically inherited metabolic disorder. This disorder leaves the disabled with a partial or complete lack of the enzyme Galactose – 1 – Phosphate Uridyl Transferase (GALT). This enzyme is found in the bloodstream and it is used for breaking down the sugar galactose. This disorder comes in two different variations. Though there is more than one type, it is still rare, having only 1 in 80,000 births being affected by the disorder.
...apter 362. Glycogen Storage Diseases and Other Inherited Disorders of Carbohydrate Metabolism. In D.L. Longo, A.S. Fauci, D.L. Kasper, S.L. Hauser, J.L. Jameson, J. Loscalzo (Eds), Harrison's Principles of Internal Medicine, 18e. Retrieved January 21, 2012 from http://www.accessmedicine.com/content.aspx?aID=9144477.
This disorder is caused by changes in the DNA of cells that make hemoglobin, the substance in human red blood cells that carries oxygen throughout your entire body. This disease is a inheritance disorder passed from parents to children. When parents have low count of hemoglobin and high could of red blood cell it is then transferred to their new born child.