Affecting 1 in every 18,000 people, Adrenoleukodystrophy (ALD) is a genetic disease that destroys the myelin sheath surrounding a brain neuron. A brain neuron is an essential cell body that is responsible for muscle contractions and ultimately, our ability to move. Adrenoleukodystrophy is a devastating genetic mutation that affects X-chromosomes in both males and females. However, because males only have one X-chromosome, the outcome is catastrophic. As said, Adrenoleukodystrophy is a x-linked metabolic disorder that progressively breaks down the myelin sheath around a brain neuron. The myelin sheath is an insulating membrane that is responsible for allowing electrical impulses to transmit effectively through cell body’s. Without it, the brain can no longer relay messages to other systems in the body. The loss of myelin is accompanied by dysfunction of the adrenal gland and inability to move. The breakdown of the myelin sheath is caused from a mutation of the gene that makes the Adrenoleukodystrophy protein (ALDP). This ALD protein helps the body metabolize saturated very-long-chain fatty acids found in the serum and tissues of the central nervous system. The newly mutated gene no longer acts as a help aid to breaking down the long-chain fats. Therefore, the body starts accumulating an abnormal amount of fat in the nervous system, adrenal gland and testes that sets off an unusual response in the immune system; demyelination. Adrenoleukodystrophy is one of many genetic
Multiple Sclerosis (MS) is a neurologic disease that affects the Central Nervous System (CNS) through cellular immune response and the demyelination of CNS white matter (McCance et al., 2014, pp. 630–633). The initial causes of MS are unknown however, it is believed that it could possibly be due to an immune response to an initiating infection or an autoimmune response to CNS antigens on the myelin itself (Brück, 2005) (Miljković and Spasojević, 2013). MS is a result of the degradation of the myelin sheath surrounding neurons and therefore disrupts the transmission of action potentials along these cells. MS can display itself in the form of symptoms ranging from muscle weakness to trouble with sensation and coordination (NHS, 2016). The degradation of myelin leads the body to attempt to remyelinate the neurons, a process that in turn leads to the thickening of the cell by glial cells and this causes lesions to form (Chari, 2007). It is this thickening (sclerae) from which the disease gets its name. Sufferers of MS can either have a relapsing type of MS, in which there are episodes that lead to the worsening of symptoms for a period of time, or a progressive type of MS where symptoms gradually progress and worsen (McCance et al., 2014, pp. 630–633).
Krabbe disease is a genetic disorder affecting the nervous system (Stanley 2005). Krabbe disease affects the breakdown of myelin coating and destroys brain cells (Stanley 2005). This can hurt the process of brain function and how the person can deal with every day activities. Myelin is a coating that coats the nerve and lets the messages get sent faster, it also protects the nerves and the nervous system (Stanley 2005). It is absolutely important and needed for the nerve cells to communicate and body functions to all work properly (Stanley 2005). As nerves get bigger, myelin is always being built, broken down, recycled, and rebuilt (Stanley 2005). To break down enzymes, metabolize fats, carbohydrates, and protein, you need myelin (Stanley 2005). Without myelin, many problems can occur.
Myelin, the common factor in each disease, is a subsatnce that surrounds and insulates axons on some nerve cells, allowing for a faster transporting of signals and proper functioning of the nervous system. A demyelinating disease results in the damage of nerve fibers in the brain and spinal cord due to the myelin sheath being destroyed, which is life threatening.
Multiple Sclerosis is a disease that attacks the myelin coating over the nerve receptors in your brain and spinal cord. Myelin is a fatty material that coats and protects the nerves in your brain. These nerves send signals to the rest of your body enabling
Multiple sclerosis is characterized by inflammation, demyelination, and axonal damage in the brain and spinal cord with a loss of myelin that covers the axons. As the myelin sheath regenerates, scar tissue forms, which looks like plaques on magnetic resonance imaging scans. Multiple sclerosis arises when immune-mediated inflammation activates T cells and causes the T cells and immune mediators to cross the blood-brain barriers into the CNS and attack oligodendrocytes (ie, a type of neuroglial cell with dendritic projections that coil around axons of neural cells). When the oligodendrocytes are attacked, the myelin sheath is replaced by scar tissue, which forms throughout the CNS. As a result of damage to the myelin sheath, the ability to transmit and conduct nerve impulses along the spinal cord and in the brain is interrupted, leading to muscle weakness, fatigue, loss of coordination, balance impairment, and cognitive and visual disturbance (DeLuca & Nocentini, 2011). This disease is characterized by unpredictable remissions that occur over several years. During periods of remission, the myelin sheath usually regenerates and symptoms may resolve, but the myelin cannot be completely repaired. As the disease progresses, the myelin sheath is destroyed and nerve impulses become much slower or absent and symptoms worsen. When degeneration exceeds self-repair ability, permanent disability results. There are four defined clinical types of
Multiple Sclerosis (MS) a disease which the immune system attacks the protective sheath also known as the myelin that covers the nerves. Damages myelin disrupts the communication between the brain and the rest of the body. The nerves itself may weaken, process that is currently irreversible.
“Multiple sclerosis (MS) is a disease in which your immune system attacks the protective sheath (myelin) that covers your nerves” (Mayo Clinic). The immune system is a defensive system that protects your body from diseases and illnesses such as parasites and bacteria (Science Museum). Not only does your immune system defend the human body but also the immune system can work against the body, which is known as autoimmune disease. Since the immune system is working against your body to attack the myelin, this creates an opportunity for multiple sclerosis to invade the nerves in the central nervous system (CNS). The myelin within the body acts like insulation to protect and coat the nervous system (National Multiple Sclerosis Society). Once the myelin is eroded, the nerves become exposed which then causes signals to and from the brain to become distorted or irrupted causing a wide range of symptoms to occur (National Multiple Sclerosis Society). The effect of the myelin eroding is an irreversible process (Mayo Clinic). “The damaged myelin forms scar tissue (sclerosis), which
Multiple sclerosis, also known as MS, is an autoimmune and inflammatory disease that is very painful for both the patient and care giver. In the disease, there is inflammation and neurodegeneration acting at the same time. There is currently no known primary cause of multiple sclerosis. The disease is however characterized by damaged fatty myelin sheaths around the axons of the brain and the spinal cord. Myelin is a mixture of proteins and phospholipids that protects many nerve fibers enabling speed at which impulses are conducted. It is pathologically characterized as the presence of glial scars all over in the central nervous system. The disease was discovered by the French neurologist Jean-Martin Charcot in 1868 when he examined the brain
Then there is the theory that common diseases or STD's trigger MS and this initiates the migration of white blood cells to enter the brain. Once in the brain these white blood cells activate certain parts of the immune system and thus the immune system begins to attack the myelin that surrounds the nerve. (1) There is another theory that the scarring of the myelin of the nerve is caused by oxidation injury. (3) Oxidation injury is seemingly caused by unstable molecules named free radicals. These free radicals supposedly take electrons from healthy molecules they find in the myelin. These free radicals are also said to occur when the body has been exposed to toxic chemicals. (5) Free radicals are described as punching holes in the cellular walls of our bodies. There is another theory that researchers of MS present. The
Multiple Sclerosis is an autoimmune disorder where the myelin sheath within the Central Nervous System is attacked (National Multiple Sclerosis Society, 2017). The myelin sheath protects the axon of the nerve cell. When the myelin sheath is intact, the axon is able to carry impulses away from the neuron’s cell body, and the message carried is clear. With Multiple Sclerosis, the myelin sheath becomes scarred, hence the word “sclerosis”, and distorts the nerve impulses traveling over the CNS (National Multiple Sclerosis Society, 2017). This may cause the message to be changed or stopped altogether.
Duchenne Muscular Dystrophy is a sex-linked disease, which is inherited in a recessive fashion (National Human Genome Research Institute, 2013). Over thirty similar genetic disorders exist (Duchenne Foundation Australia, 2015). All types of muscular dystrophy are considered to be a rare disorder (Duchenne Foundation Australia, 2015). Duchenne Muscular Dystrophy is most common in children and causes muscle weakness and wasting, which commonly begins in the lower limbs (Duchenne Foundation Australia, 2015; National Human Genome Research Institute, 2013). The disease itself is caused by changes to the DMD gene, which is responsible for providing instructions regarding the creation of the dystrophin protein in one’s muscles (Duchenne Foundation Australia, 2015). This protein is responsible for protecting muscles from damage, and without it the cells of a person’s muscles deteriorate and symptoms of Duchenne Muscular Dystrophy are exhibited (Duchenne Foundation Australia, 2015). The disease results from changes in the DMD gene, or other genetic changes in a child (Duchenne Foundation Australia, 2015).
Multiple Sclerosis (MS), is considered to be "a immune-mediated disease" (nationalmssociety.org). This means within the Central Nervous System (CNS), the immune system mistakenly attacks myelin – The "fatty substance that surrounds and insulates the nerve fibers" (nationalmssociety.org) – as well as nerve fibers themselves. When the myelin and nerve fibers are damaged, the myelin interferes with nerve conduction. The symptoms of MS relate to this interruption of signaling between
Muscular dystrophy (MD) is a genetic disorder caused by incorrect or missing genetic information that leads to the gradual weakening of the muscle cells. Various causes lead to weak and deteriorating muscles depending on the type of muscular dystrophy the patient was affected by. However, there are many causes for muscular dystrophy due to the fact that there are thirty forms of muscular dystrophy, which are categorized under several categories. All are ultimately caused by autosomal recessive, autosomal dominant, sex-linked, and random mutations in very rare cases.
ALD affects the nervous system in the brain. The disease strips away the coating or the
1. The movie Lorenzo’s Oil challenges some of the medical assumptions made around the disease Adrenoleukodystrophy (ALD). Firstly within the movie, during the initial diagnosis of the disease, Dr.Nikolais informs the family there was is cure for ALD. The Odone’s refuse to accept this fate of their son and challenge this by discovering an oil that appears to ‘cure’ ALD. Secondly within the film is it explained that with ALD, elevated very-long-chain fatty acids (VLCSFA) levels lead to deterioration of myelin sheaths around the nerves.