Lysosomes are important organelles in eukaryotic cells. Lysosomes are responsible for breaking down used material in the cell. Lysosomal malfunction can lead to a variety of diseases. Gaucher disease is a rare genetic condition. It is caused by a defective gene that limits the amount of an enzyme called glucocerebrosidase. This enzyme usually breaks down a fat called glucocerebroside. Excess amounts of glucocerebroside builds up in the spleen, liver, lungs,bones, and brain. There are three types of Gaucher disease. Type I causes a wide range of symptoms including fatigue, easy bruising, slow or stunted growth in children, intestinal problems, trouble breathing, seizures, and developmental delays. In type II, rigidity and seizures develop in
Lysosomes contain hydrolytic enzymes which function in the acid of the lysosome and are meant to be secreted not as wastes into the extracellular fluids, but as secretory proteins into an intracellular organelle. When one of these enzymes is dysfunctional, the catabolism of its macromolecule does not completely occur and there is a buildup of the macromolecule inside the lysosome. This results in great numbers of large lysosomes which begin to interfere with the normal functions of the cell. This disorder is called lysosomal storage disorder. These disorders can eventually lead to the dysfunction of the organs. The organs affected by the disorder are determined by two factors: 1) The location in the body where the macromolecules that are to be catabolized are found, and 2) The location where the catabolism occurs.
Osgood-Schlatter Disease or syndrome (OSD) is an irritation of the patellar ligament at the tibial tuberosity (Dhar). Osgood-Schlatter Disease is claimed by some to not actually be a disease (Sims). But is rather a collection of symptoms that involves the tibial tubercle epiphysis (Sims). Osgood-Schlatter Disease affects as many as 1 in 5 adolescent athletes (Diseases and Conditions: Osgood-Schlatter Disease). Some other common names for this disease are Osteochondrosis, Tibial Aponphysitis, Tibial Tubercle Apophyseal Traction Injury, Morbus Osgood- Schlatter, and Rugby Knee (Dhar). “This can cause multiple sub-acute avulsion fractures along with inflammation of the tendon, leading to excess bone growth in the tuberosity and producing a visible lump which can be very painful when hit (Dhar). Activities such as kneeling may irritate the tendon further (Dhar).”
In the book it says "They can spend a whole lifetime worrying whether they 're carriers, and then we come along and offer them a test. Recessives and X-linked. Look what they 're doing with fragile-X nowadays. And cystic fibrosis. Just imagine the commercial possibilities if you can design and patent a probe for something like Gaucher 's disease...(69)" Recessive traits is the phenotype is seen only a homozygous recessive genotype for the traits of the interest is present. The booked talked about two of three diseases that are most common in the Ashkenazi Jewish population. The first one is Cystic fibrosis which is an inherited life-threatening disorder that effects the lungs and the digestive system. The other one mention in the book that wasn’t mention in class was Gaucher 's disease. Gaucher 's disease is a build up of fatty substances in your organs, usually in you spleen and liver. Which causes them to become bigger affecting their function. The last one that we learned in class was Tay-Sachs disease, which is a rare inherited disorder that destroys nerve cells in the brain and spinal
Creutzfeldt-Jakob is a fatal, progrossive and incurable neurologic disorder which affects the brain in a destructive way. Globally, it attacks one person in every one million people. Specifically, at United State there are more than 300 cases per year. However, it is extremely complicated to diagnose, so the number of cases might get higher in the future. CJD (Creutzfeldt-Jakob disease) symptoms usually occur in later life for women and men whose ages are between 60 and 70. This essay displays a definition of Creutzfeldt-Jakob disease based on its identity, causes, symptoms, risk factors and treatment.
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.
Tay-Sachs disease is a genetic disorder, which destroys nerve cells in the brain and spinal cord (See picture B). It is a mutation to the Hex-A gene. The enzyme created by the Hex-A gene, beta-hexosaminidase A, breaks down fatty substances called GM2 ganglioside. Because the gene is mutated and can no longer break down the substance, it eventually builds up and becomes toxic to the body. This substance destroys neurons in the brain and spinal cord leading to various symptoms many dealing with the break down of muscles and nerves (ghr.nlm.nih.gov).
...rmeulen A, Kho TL; Anderson-Fabry's disease: alpha-galactosidase deficiency. Lancet. 2001 Jan 13;357(9250):138-40. Available at: http://www.ncbi.nlm.nih.gov/pubmed/11197415?dopt=Abstract Accessed 8th July 2010
Most people do not expect to become paralyzed during the course of their lives. Barring injury to the nervous system or debilitating disease, one does not expect to lose motor function. In spite of these expectations, people of all races, sexes, ages, and classes can be afflicted with a debilitating syndrome that can lead to difficulty in walking or even to temporary paralysis in the most severe cases. This syndrome is known commonly as Guillain-Barre Syndrome, or GBS.
Throughout history, society has been confronted by conditions, diseases, and syndromes that could not be treated, let alone cured. In 1916, a man named Georges Guillain, a man named Jean Alexandre Barre, and a man named Andre Strohl, began to observe symptoms in a soldier that they later named Guillain-Barre Syndrome. Amongst the syndromes that leave research scientists discombobulated is Guillain-Barre Syndrome, GBS. GBS is a rare but serious condition that has various effects on well-being.
Growing up, you always hear bad things about the autoimmune disease known as lupus on tv and how other people talk about the disease. It puts thoughts into your head about that it is a bad disease and that people who have it are contagious and are dangerous to be around; however, people with the autoimmune disease known as lupus is not contagious and some patients diagnosed with the disease are not dangerous. Lupus is an autoimmune disease that is chronic and can damage parts of your body anywhere. What is lupus, you ask? It is a disease causes something to go wrong with the immune system and makes it to where the immune system can't tell which antibodies are good and bad. Lupus is sometimes compared to lupus to cancer because some doctors use chemotherapy to medicate someone with the disease; but, it is not related to cancer in anyway shape or form.
Guillain- Barre Syndrome (GBS) is a rare, but very fatal auto- immune disease that specifically focuses on attacking the myelin sheath that surrounds the peripheral nerves in the human body. There are many different severities of this disease, but without treatment it can not only affect the entire nervous system but eventually shut down the rest of the body.
Genes associated in Leigh’s Syndrome are involved in energy production in mitochondria (Leigh Syndrome.). The syndrome is known by the progressive loss of mental and movement abilities (Leigh Syndrome.). Leigh’s syndrome involves genetic mutations in mitochondrial DNA that interfere with energy sources that run cells in areas of the brain that play a role in motor movements (Leigh's Disease (Leigh's Syndrome)). Since Leigh’s Syndrome is a neurological disorder, it is characterized by the deterioration of the central nervous system (spinal cord, brain, etc.) (Leigh's Disease (Leigh's Syndrome)). The first signs of Leigh’s syndrome occur in infants: vomiting, diarrhea, and difficulty swallowing (Leigh Syndrome.). The symptoms, which rapidly progress, are caused by areas of damaged tissue (lesions) that develop in the brain (Leigh Syndrome.) In about 20-25% of people with Leigh’s syndrome it is inherited through mitochondrial pattern known as maternal inheritance (Leigh Syndrome.). Leigh’s Syndrome is inherited from the mother as a mutation found in mitochondrial DNA (mtDNA) (Leigh Syndrome | Disease). The mtDNA of the father is carried by sperm cells, but during fertilization it is lost. Therefore all of the mtDNA comes from the mother (Leigh Syndrome | Disease). A mother with Leigh’s disease will pass the traits to all of her children. However, only daughters will pass the mutation to the next generation (Leigh Syndrome | Disease). As children get older and the disease progresses, symptoms can include lack of muscle tone, generalized weakness, and episodes of lactic acidosis (Leigh's Disease (Leigh's Syndrome)). High levels of lactic acid in the brain and blood cause lactic acidosis (Leigh's Disease (Leigh's Syndrome)). Treatments for Leigh’s Syndrome include supportive therapies such as physical therapy and speech therapy (Leigh's Disease). To manage lactic
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.
GSD I is a genetic disease resulting from the deficiency of the enzyme glucose-6-phosphate (G-6-P) and glucose-6-phosphate translocase (Andria et al). These particular enzymes are important in enabling the liver to produce glucose from glycogen and/or generate new glucose via gluconeogenesis. The inability of the liver to produce glucose from these metabolic pathways can result in severe hypoglycemia since the liver is responsible for maintaining blood glucose for the body in periods of fasting. The reduction of glycogen breakdown can also cause the kidneys and liver to become enlarged because excess glycogen is typically stored within these two organs. The liver and kidneys can typically function normally during childhood, however because of the increas...
Most individuals are either related to or know someone who is effected by some type of disability. Many of these disabilities are caused by genetic disorders. Genetic disorders may alter physical appearance and cause mild to severe mental retardation. Fragile X syndrome, Down syndrome, Turners syndrome and many other syndromes result from a mutation of a chromosome, an extra chromosome, or too few chromosomes.