Neurofibromatosis Type 1 is one of the most common genetic disorders affecting more than 100,000 Americans. Although the majority of cases show a distinct inheritance pattern, still 30-40 percent of cases arise from spontaneous mutation in the Nf1 gene. Common symptoms of the disease include brown spots on the skin known as café au lait spots, neurofibromas, growths on the eyes and optic nerve, and abnormal development of the spine, skull, and tibia. Around 50 percent of patients with Neurofibromatosis type 1 suffer from painful skeletal manifestations due to abnormal development of the bones. The exact cause of the skeletal abnormalities associated with the disease is still unclear, but the lesions are thought to result from bone cell autonomous mutations, in which only the genotypically altered bone cells are affected.
Neurofibromatosis is caused by the loss of function mutation in the Nf1 gene. Nf1 encodes neurofibromin, a protein with a Ras GTPase activating domain. Neurofibromin is critical for the regulation of proliferation and differentiation of progenitor cells. It has bee...
FOP occurs randomly and is not inherited. Experts believe that one cause of fibrodysplasia ossificans progressiva is born with mutations in the ACVR gene what provides the body with instructio...
ACH, is an interesting disease, one that after many years of research still remains a partial mystery. The fact that a single nucleotide on one chromosome can so greatly affect an individual is astounding, especially coupled with the fact that this mutation is so homogenious in genotype and phenotype. With more skeletal dysplasias being connected to FGFR3, research has increased to fully determine and define the pathways involved with this gene. Determining the reason for such a high mutation frequency and the link to paternal age are also being looked into. Once there is more understanding of how this mutation affects the body, treatments and possibly cures can be found for these individuals.
... in glioma cells (suppression of autophagy, mentioned above, is often accompanied by activiation of apoptosis). Silencing eEF-2 kinase expression with the inhibitors (NH125) remarkably increased the TMZ-activated apoptosis in human glioma cells. One other important discovery of this experiment was that the combination of TMZ and NH125 did not cause TMZ to destroy normal human astrocytes. Essentially, co-treatment of TMZ with NH125 made TMZ more effective against glioma and produced a better survival benefit for the mice, but could not cure the mice. This may be because the amount of NH125 (eEF-2 inhibitor) used was not enough, or the dosages of TMZ and NH125 were not optimal. Nonetheless, development of better and more effective inhibitors of eEF-2 kinase may help in finding the cure for glioblastoma multiforme, the malignant and extremely aggressive brain tumor.
Spina Bifida is the most common permanently disabling birth defect in the United States. It is a birth defect in which a developing baby's spinal cord fails to develop properly. The term Spina bifida comes from Latin and means "split" or "open" spine. This disorder occurs when the fetus is growing in the womb and its spine doesn’t form correctly. Some of the vertebrae don’t close to make their normal ring shapes around the spinal cord. This defect happens at the end of the first month of pregnancy, when a baby's spine and spinal cord are developing. Causes of Spina Bifida Causes that cause this disorder are low levels of the vitamin folic acid during pregnancy. Not having enough folic acid in the diet before and during early pregnancy can increase a woman's risk of Spina bifida and possibility of other neural tube defects. A high fever during pregnancy may increase a woman's chance of having a baby with Spina bifida. Some evidence suggests that genes may be a cause of Spina Bifida, but most babies born with Spina bifida have no family history of the condition. Also, women with epilepsy
The range and severity of symptoms and findings may be extremely variable, including among affected members of the same family. However, primary findings may include premature closure of the fibrous joints between certain bones of the skull, unusually flat, underdeveloped midfacial regions abnormally broad great toes, and/or malformation or fusion of certain bones within the feet. In some cases, Jackson-Weiss Syndrome may result from new genetic changes that appear to occur randomly for unknown reasons. In other affected individuals, the disorder may be inherited. Mutations in the FGFR2 gene cause Jackson–Weiss syndrome. The FGFR2 gene produces a protein called
Flaccid dysarthria results from damage to the lower motor neurons (LMN) or the peripheral nervous system (Hageman, 1997). The characteristics of flaccid dysarthria generally reflect damage to cranial nerves with motor speech functions (e.g., cranial nerves IX, X, XI and XII) (Seikel, King & Drumright, 2010). Lower motor neurons connect the central nervous system to the muscle fibers; from the brainstem to the cranial nerves with motor function, or from the anterior horns of grey matter to the spinal nerves (Murdoch, 1998). If there are lesions to spinal nerves and the cranial nerves with motor speech functions, it is indicative of a lower motor neuron lesion and flaccid dysarthria. Damage to lower motor neurons that supply the speech muscles is also known as bulbar palsy (Pena-Brooks & Hedge, 2007). Potential etiologies of flaccid dysarthria include spinal cord injury, cerebrovascular accidents, tumors or traumatic brain injury (Pena-Brooks & Hedge, 2007). Possible congenital etiologies of flaccid dysarthria include Moebius syndrome and cerebral palsy. Flaccid dysarthria can also arise from infections such as polio, herpes zoster, and secondary infections to AIDS (Pena-Brooks & Hedge, 2007). Additionally, demyelinating diseases such as Guilian-Barre syndrome and myotonic muscular dystrophy can also lead to flaccid dysarthria (Pena-Brookes & Hedge, 2007). The lower motor neuron lesion results in loss of voluntary muscle control, and an inability to maintain muscle tone. Fasciculations, or twitching movements, may occur if the cell body is involved in the lesion (Seikel et. al., 2010). The primary speech characteristics of flaccid dysarthria include imprecise consonant production, hypernasal resonance, breathiness, and harsh voice (...
Marfan syndrome is a Single Gene Mutation and the gene that is mutated is FBN 1 (Fibrillin 1).The gene is located on chromosome 15 and the disorder’s mode of inheritance is autosomal dominant. This means that females and males are equally affected and that only one gene, “abnormal” gene is needed from either parent to be inherited in. Fibrillin 1 basically affects the elasticity of connective tissue. The gene makes many fibrillin proteins and these fibrillin proteins then join together to form a long, and string like object called microfibrils.
Amyotrophic Lateral Sclerosis is a progressive neurodegenerative disease that affects nerve cells in the brain and the spinal cord. Amyotrophic Lateral Sclerosis is better known as ALS or Lou Gehrig’s disease. Amyotrophic Lateral Sclerosis was not brought to International or national attention until Famous New York Yankees baseball player, Lou Gehrig, was diagnosed with it in 1939. Jon Stone, the writer and creator of Sesame Street, was also diagnosed with Amyotrophic Lateral Sclerosis. Amyotrophic Lateral Sclerosis is very deadly and it physically handicaps a person as it progresses. There are two types of Amyotrophic Lateral Sclerosis, Sporadic and Familial. Sporadic is the most common cause in some cases and Familial is inherited, which is rare. Amyotrophic Lateral Sclerosis is one of the most aggressive muscular atrophy disorders, it has many signs and symptoms, and it can be treated but cannot be cured.
Canavan Disease is a fatal neurological disease where there is significant damage to the nerve cells in the brain. There is a defect in the myelin sheath that causes many problems for the nervous system. The major problem is caused when the enzyme aspartoacyle is not present. This missing enzyme causes a chemical imbalance that causes this defect in the myelin sheath. The myelin in the brain destructs which makes it a spongy tissue. This causes overall muscle weakening and slower movements, leading to severe mental retardation. A recent study has shown that the cells in the brain that are responsible for making myelin sheaths (oligodendrocytes), cannot complete the task. When babies are born they may not show any signs at all until the first few months. This disease is only inherited and categorized under a group of diseases called leukodystrophies. Leukodystrophies gets its name because it means there is a degeneration of myelin, which is a fatty cushioning that shields nerve fibers. This makes the nerve signals very difficult to transmit. People with Canavan Disease life span can range from a couple days, months, or maybe even until their twenties (Genetics Home Reference, n.d.); (Canavan Foundation, n.d.).
The causes of FMS are unknown. Sometimes, fibromyalgia occurs spontaneously. Some people speculate that traumatic or stressful events can cause fibromyalgia. Others believe it can be caused by repetitive muscle injuries. It is also sometimes linked to other serious illnesses as well. According to NIAMS (National Institute of Arthritis and Musculoskeletal and Skin Disease), researchers are beginning to speculate how the brain and spinal cord process pai...
The syndrome is caused because of Genetic mutation that replaces connective tissues (muscles) with bones when someone gets injured instead of getting cured. This results in a new skeletal structure. Unfortunately this syndrome does not have any cure and the patients are advised to always be careful and not to fall or have any kind of traumas. They can’t engage in any sports in order to prevent any injuries. Surgery for removal of extra bones is not an option because removal of bones will lead to ingrowth of more bones. From previous cases it is seen that most of the patients suffering from this condition do not live more than 40 years and they die of respiratory
Multiple sclerosis is a chronic disease of the central nervous system. It is understood as an autoimmune disease, a condition where the body’s immune system mistakenly attacks normal tissues. In Multiple Sclerosis, the patient’s own cells & antibodies attack the fatty myelin sheath that protects and insulates nerve fibres in the brain and spinal cord, the two components of the CNS. This ultimately causes damage to the nerve cells and without the insulation the myelin sheath provides, nerve communication is disrupted. Hence, Multiple Sclerosis is characterized by symptoms that reflect central nervous system involvement (Luzzio, 2014).
SMA is largely an inherited autosomal recessive disease caused by mutations in chromosome 5q that lead to a deficiency in SMN1-related proteins. In rare instances (2-3% of SMA), SMA can occur de novo rather than inheriting a defective copy of the gene from each parent. This deficiency results in degeneration of motor neurons causing muscle atrophy, particularly in the limbs and the muscles that control the mouth, throat and respiration. There are four types of SMA, types I, II, III, and IV which are defined based on the severity of muscle weakness and the age of symptom onset. SMA type I (Werdnig-Hoffmann disease) is the most severe. SMA type I-affected infants represent approximately 60% of SMA diagnoses and present with the disease by 6 months of age. These infants are profoundly hypotonic and often succumb to complications of the disease by their second year of life. SMA type II affected children (intermediate form) present with symptoms prior to 18 months of age and develop the ability to sit unaided but not the ability to stand or walk. Individuals affected by SMA type III (Kugelberg-Welander disease) are also generally diagnosed by 18 months but are able to stand and walk. SMA type III affected individuals may live into their thirties and
Congenital defects also may have genetic bases, as in families who have extra fingers or toes or in the disease osteogenesis imperfecta, in which children have such brittle bones that many are fractured. Disorders of growth and development include several kinds of dwarfism and gigantism. Bones or limbs may develop deformity as the result of known causes, such as the infection poliomyelitis, or unknown or variable causes, such as curvature of the spine (SCOLIOSIS) or CLUBFOOT. Infections Infections of bone, called osteomyelitis, are usually caused by pus-producing bacteria, especially Staphylococcus and Streptococcus.
One of the most common mysteries in the world is the development of autoimmune diseases. An autoimmune disease is when the immune system, which usually keeps your body healthy thinks that your healthy cells are antigens and attacks them. This is irony right? It is against properties of evolution for an immune system to attack itself causing sickness and possibly death if untreated. There are about 80 different types of autoimmune diseases, which usually have periods of little to no symptoms and worsening symptoms. What particularly creates confusion in the world is the autoimmune disease, inflammatory bowel disease, which affects almost about five million people worldwide.