Channelopathy refers to the diseases that are caused by a disturbance in the function of an ion channel. This greatly affects the neuron as the neuron tends to contain many ions channels which make it possible to produce an action potential. A disease that is known as a channelopathy is hyperkalemic periodic paralysis that is also known as HPP this is caused by an inherited autosomal dominant mutation in the DNA sequence. The gene that is responsible for this function is SCN4A. So just having the gene will cause the mutation to be expressed. This disease affects the sodium voltage gated ion channels ability causing inactivate problems. This causes their to be a higher concentration of potassium in the blood disrupting the setpoints to maintain
ALS is led to mean no muscle nourishment. When a muscle has no nourishment, it atrophies or wastes away hence the name. In addition to this, lateral shows the areas in a person's spinal cord where part of the nerve cells that signal and control the muscles are located. As this area degenerates, it leads to scarring or hardening (sclerosis) in this particular region.
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.).
... affecting the peripheral nervous system. Ascending paralysis, weakness beginning in the feet and migrating towards the trunk, limbs and the head, is the most common symptom, and some subtypes cause change in sensation or pain, as well as dysfunction of the autonomic nervous system. It can cause life-threatening complications, in particular if the respiratory muscles are affected or if the autonomic nervous system is involved. The disease is usually triggered by an infection. The diagnosis is usually made by nerve conduction studies and with studies of the cerebrospinal fluid. With prompt treatment by intravenous immunoglobulin’s or plasmapheresis, together with supportive care, the majority will recover completely. Guillain Barré syndrome is rare, at one to two cases per 100,000 people annually, but is the most common cause of acute non-trauma-related paralysis.
Hypercholesterolemia is the presence of high levels of cholesterol in the blood. Cholesterol is a waxy fat-like substance and is a major class of lipid, so it gets into the blood by lipoproteins [1]. A high level of lipoproteins is unhealthy. A high level can result in an elevated risk of atherosclerosis and coronary heart disease [2]. The high levels of lipoproteins are often influenced by a combination of genetic and environmental factors such as obesity or dieting habits [2]. High cholesterol can be caused by mutations in the following genes: APOB, LDLR, LDLRAP1, and PCSK9 [3]. Mutations in the LDLR gene are responsible for causing familial hypercholesterolemia, which is the most commonly seen form of inherited high cholesterol [3]. The LDLR gene contains instructions for making LDL receptors or low-density lipoprotein receptors. LDL receptors play critical roles in regulating levels of cholesterol in the blood by removing low-density lipoproteins from the bloodstream. Mutations in the LDLR gene can make the amount of LDL receptors produced less than normal or affect their job of removing the low-density lipoproteins in the blood [4]. People who have these mutations will have higher levels of cholesterol. There are many ways that the environment can affect the levels of cholesterol in the blood. Reducing the amount of dietary fat you consume lowers the total amount of cholesterol in the blood [5]. Sucrose and fructose can raise the amount of LDL in the blood. Reducing fatty foods will however lower the amount of LDL [5]. Having a healthy body and maintaining physical exercise plays a key role in keeping your cholesterol at a healthy level. If you are overweight or obese you can lower your cholesterol levels by simply losing ...
At birth, children with familial dysautonomia are diagnosed by a distinct set of symptoms. (FD Facts) Poor muscle tone and lack of tears are two symptoms that can be detected very early. As they get older they have a hard time maintaining body temperature, they hold their breath for long periods of time and have a delay in speech and walking. The cause of these symptoms is due to a defect IKBKAP gene. Someone with familial dysautonomia has two copies of IKBKAP in each cell, which means a mutation occurred. This mutation disrupts the information in the IKBKAP gene that helps the production of IKAP protein. The IKAP protein is used for brain functions but when the mutation occurs, not enough of the proteins are made for the brain to function properly...
Parkinson disease (PD), also referred to as Parkinson’s disease and paralysis agitans, is a progressive neurodegenerative disease that is the third most common neurologic disorder of older adults. It is a debilitating disease affecting motor ability and is characterized by four cardinal symptoms: tremor rigidity, bradykinesia or kinesis (slow movement/no movement), and postural instability. Most people have primary, or idiopathic, disease. A few patients have secondary parkinsonian symptoms from conditions such as brain tumors and certain anti-psychotic drugs.
Amyotrophic lateral sclerosis, or ALS, is a degenerative disease affecting the human nervous system. It is a deadly disease that cripples and kills its victims due to a breakdown in the body’s motor neurons. Motor neurons are nerve cells in the brainstem and spinal cord that control muscle contractions. In ALS, these neurons deteriorate to a point that all movement, including breathing, halts. Muscle weakness first develops in the muscles of body parts distant from the brain, such as the hands, and subsequently spreads through other muscle groups closer to the brain. Such early symptoms as this, however, can hardly be noticed.
In 1970, the first clinical case of trimethylaminuria (TMAU) was found by J.R Humbert, when diagnosing a 6-year old girl. Trimethylaminuria is a rare, genetic, metabolic disorder in which the bodily fluids being excreted contain Flavin Containing Monooxygenase 3, or FMO3. The FMO3 gene is unable to breakdown Trimethylamine (TMA) into Trimethylamine N-Oxide in a natural bodily process. The FMO3 protein oxidases a chemical reaction within the bodily fluids that allow Trimethylamine to break down into a non-pungent chemical, Trimethylamine N-Oxide (TMAO). Trimethylamine is the chemical compound that is responsible for the strong fishy odor in bodily fluids. When FMO3 proteins are working, the Trimethylamine is converted into the Trimethylamine
The results for their test using a three-pulse voltage clamp protocol showed significant chloride reductions in the R6/2 mice, compared to the control. This result confirmed their first hypothesis. A second hypothesis was that if self-triggered action potentials occur after a subthreshold stimuli (as was observed) then there must be hyperexcitability present in the Huntington’s disease muscle caused by a reduction in the inward flow of potassium conductance. To test this hypothesis they measured Kir currents from both the diseased and the control mice. Their results proved the second hypothesis correct because the R6/2 mice had significantly lower potassium conductance than the control mice. By focusing on the membrane itself within the muscle, this study was able to open up possible discoveries and treatments on how to control the horrible symptoms that go along with Huntington’s disease. Many of our treatments today in many different diseases start at the membrane and this may be able to
Adrenoleukodystrophy is a sex-linked trait carried on the X-chromosome and is carried by the mother. It is only passed on to male children, and every male child that a carrier mother gives birth to has a fifty-fifty chance of acquiring adrenoleukodystrophy. Adrenoleukodystrophy, more commonly called ALD, affects the nervous system. The inability to break down fatty acids causes demyelination of the nerves in the brain, spinal cord, and other areas of the body. Myelin is the insulating sheath around a nerve, and is broken down during demyelination. Once the myelin disappears, nerves will start to short-circuit and stop working. Symptoms can include seizures, tantrums, and mood-swings. ALD generally occurs in one of three main forms. In the first form, which is also the most common, occurs in young male children, usually before they reach the age of twelve. Although this is the most severe form, causing loss of the function of the brain and nervous system, it has the most available treatments. The second form, which is usually present in adults, is characterized by a gradual loss of nerve function, much like that of multiple sclerosis. It has also been misdiagnosed by some inexperienced or uninformed doctors as MS, which may lend some insight as to the similarities between the two diseases. Unfortunately, there are no “recognized” treatments for this form of the disease. The third form is very similar to Addison’s Disease, in which the VLCFA build up in the adrenal glands, and they lose their function. For this form though, there are treatments available.
PD is known to be idiopathic, however, many studies have found that a combination of genetic and environmental factors are associated with the development of PD. Environmental risk factors include the use of pesticides, living in a rural environment, consumption of well water, and proximity to industrial plants or quarries. The genetic causes also have been studied and it was found that a genetic cause for the development of PD accounts for 5% of all cases (Hauser et al. 2010). Medications that block dopamine receptors also are considered to be a cause for the development of Parkinson disease. Int...
Many people around the world today suffer from Parkinson’s disease and other movement disorders. A movement disorder is a disorder impairing the speed, fluency, quality, and ease of movement. There are many types of movement disorders such as impaired fluency and speed of movement (dyskinesia), excessive movements (hyperkinesia), and slurred movements (hypokinesia). Some types of movement disorders are ataxia, a lack of coordination, Huntington's disease, multiple system atrophies, myoclonus, brief, rapid outbursts of movement, progressive supranuclear palsy, restless legs syndrome, reflex sympathetic dystrophy, tics, Tourette's syndrome, tremor, Wilson disease, dystonia, which causes involuntary body movement, and Parkinson's disease. Parkinson’s disease, Tourette’s syndrome, and tics are one of the most widely known of these disorders, known to impair people of movements and rob them of their lives.
...ystems action leading to coma and death. Alkalosis is when the bloods pH increases to become more alkaline, it results in over excitement of the nervous system leading to convulsions. There are key pH changers that can occur; vomiting can lead to alkalosis, diarrhea can lead to acidosis. Kidney disfunction could happen either way, if the kidneys get messed up then blood pH can be all over the place.
This can result in single gene disorders that may or may not be life threatening depending on the mutation. For example, the Maple Syrup Urine Disorder, or MSUD, is a potentially fatal disease that disables the body from breaking down valine, leucine and isoleucine. These three amino acids are used to build proteins and are eventually broken down by branched –chain alpha ketoacid dehydrogenase (BCKD). Individuals who are affected by MSUD have a mutation that lack one of the six proteins that assist in the breakdown of the three amino acids. As a result, increased levels of valine, leucine and isoleucine end up in the blood stream and cause degradation of brain cells. In order for the disease to be inherited the child must obtain an altered gene from each parent, which makes MSUD an autosomal recessive
Ions are critical to human health. As defined by Dictionary.com, an ion is an electrically charged atom or group of atoms formed by the loss or gain of one or more electrons. The human body is the most intricate of ‘designs,’ despite the fact it is composed of basic natural resources called elements. The ions discussed in this paper include oxygen, carbon, potassium, and sulfur. A healthy body is composed of these ions, along with others (zinc, fluoride, iron, etc.). The absence of these elements could lead to an unhealthy body, and make it an easier target for diseases. The chemical formulas, charges, and properties will also be discussed in this document. Also, addressed is the essential role of the ion presented, the way in which the ion serves the body, the diseases that may result from deficiency, and the global distribution of these deficiencies. Ions are an essential part of human health. The ions that are present make the body’s daily functions possible, allowing it to be protected from cruel bacteria or diseases.