Imagine your child dying a few months after they are born because of the genes you passed down to them. This is possible with many genetic diseases; one such disease can be Krabbe disease. Krabbe disease changes many aspects of a diagnosed person’s life because of the troubling and debilitating side effects. Children with Krabbe disease might not be able to complete daily activities. This can affect not only the child but also the people around them.
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.
Krabbe disease affects this production of myelin due to a missing enzyme. People with Krabbe disease do not have the enzyme, galactosylceramidase, or GALC (Stanley 2005). GALC is located in chromosome fourteen (Stanley 2005).
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).
Since children lack the HEXA-A gene it causes progressive damage and eventually the nervous system will shut down because it can no longer produce vital neurons needed to function the nervous system and life. Beta-hexosamindinidase is located in the lysosomes, which are structures in cells that act as recycling centers and breaking down the toxic substance. Beta-hexosamidnidase role is toxic and fatty substances called GM2 ganglioside. If the gangliosides become overpowering or too much, can cause destruction of the neurons. The excessive storage of the gangliosides in lysosomes is another factor that causes Tay-Sachs. Tay-Sachs occurs usually when the individual lacks the protein hexosamindinidase A and defected and alterations on chromosome 15 (specifically 15q23-q24). More than 50 mutations having been discovered on chromosome 15 and HEXA-A enzyme. The mutation can vary as in deletion, insertion, and splitting in which each mutation alters the protein. The mutation and disorder cause a decrease in enzymes activity. The severity of the disorder depends on the degree of the enzyme activity and deficiency. For example, one mutation includes, the mutation includes a G-to-T substitution at the 3-inch end of intron 5, which makes a short mRNA. Then skipping exon 6 and the polypeptide lacking 34 amino acids. (Tanaka
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.
The specific metabolic disorder that I picked for this discussion is Krabbe Disease or globoid cell leukodystrophy. The disease destroys the protective coating of nerve cells in the brain and throughout the body causing the nerve cells to stop responding or react unpredictably. The disease is caused by a person receiving two copies of a mutated gene that results in severely curtailed production of an enzyme called galactocerebrosidase (GALC) (Krabbe disease, n.d.). This enzyme is responsible for breaking down certain substances in a cell's recycling center. Unfortunately, in Krabbe disease, not enough GALC was produced so the cells begin accumulating fats called galactolipids which normally are responsible for maintaining the protective coating
Krabbe disease is a disorder in the nervous system in which the patient becomes unable to function correctly. This enzyme deficiency impairs the growth and maintenance of myelin, the protective covering around certain nerve cells that ensures the rapid transmission of nerve impulses. A large cell of a primary germ is found clustered together in the space between the skull and the brain causing it to destroy the cells. Although, this disease generally directed at infants it may also develop in an older child or adult.
Adrenoleukodystrophy or otherwise know as ALD is a genetic and metabolic disorder in ,which long chains of fatty acids are deposited in the adrenal cortex and the nervous system, since the enzyme that breaks down fatty acids is not produced. The myelin sheath of the nerve cells and brain begins to deteriorate and weaken. The myelin sheath is responsible for protecting and covering the brain and nerve cells. When it becomes damaged neurological damage happens which is irreversible. As is the case of the occipital lobe. Which is located in the back when it becomes damaged it can lead to poor vision or blindness. There's two types of ALD ,but the most common is X-ALD. This means that their is an abnormal gene located on the x- chromosome.
Klinefelter syndrome is a genetic condition that results when a boy is born with an extra copy of the X chromosome. Klinefelter syndrome is a common genetic condition affecting only males. It mostly affects testicular growth, and this can result in smaller than normal testicles. This can lead to lower production of the sex hormone testosterone. Klinefelter syndrome may also cause reduced muscle mass, reduced body and facial hair, and enlarged breast tissue. The effects of Klinefelter syndrome affect every person differently, and not everyone with it develops the same signs and symptoms. Klinefelter syndrome often isn't diagnosed until adulthood. Most men with Klinefelter syndrome produce little or no sperm. But assisted reproductive procedures
In early 1981, an unknown epidemic was spreading across America. In June of that year, the Centers for Disease Control (CDC) reported five cases of a strange pneumonia in Los Angeles. By July, 40 cases of an even rarer skin cancer was being reported by providers working in the gay communities of New York and San Francisco. By August, the Associated Press reported that two rare diseases, the skin cancer Kaposi's sarcoma and pneumocystis, a form of pneumonia caused by a parasitic organism, had infected over 100 gay men in America, killing over half of them. By the end of the year, theses combined diseases had taken 121 lives; 1983 gave a name to the disease and by 1984 the virus had been isolated. Two years later, the virus was given its current
Multiple Sclerosis occurs as a result of demyelination of the axons within the central nervous system and neuronal loss.1 The immune system produces antibodies that attack oligodendrocytes. When the oligodendrocytes are destroyed, they produce patches of demyelination referred to as plaques.2 (p.41) These plaques are found in the white matter of the central nervous system. With the loss of myelination of neurons, the transmission of signals may become slowed or blocked.2(p.41) Communication between the brain, spinal cord, and other areas of the body are hindered.3 Multiple sclerosis may result in the deterioration of the myelin surrounding the nerves, and also the nerves themselves. Unfortunately, this disease process is irreversible, incurable and often debilitating.3
The second stage of Krabbe’s disease involves aplasia and hypoplasia, which is a defective development of the abdominal wall musculature. There is also hypertonia, which is damage to the Central Nervous System (CNS). The CNS is the brain and the spinal cord, which controls most of the functions of the body and mind. There is also visual impairment, sensorineural hearing loss (SNHL), cognitive impairment, and electromyography (EMG) abnormalities (ORDR). These symptoms vary from person to person (Wenger 2000). Some less common
Wernicke encephalopathy, a disease that alters brain structure, and Korsakoff syndrome, a memory loss disease, are two conditions that frequently afflict victims together. The sickness occurs in individual who lack vitamin B1 most often due to alcoholism but also because of malnourishment. The condition can also occur in individuals with illnesses or after weight reduction surgery.
never has been isolated. Over the years the syndrome has been found to be a chromosomal
“[Twenty-five] Important Klinefelter Syndrome Statistics. Klinefelter syndrome [KS] is a genetic chromosomal condition that affects only men.” (healthsearch funding.org.) Klinefelter Syndrome causes changes to their cognitive and physical development.The Klinefelter syndrome affects a lot of sex characteristics the origin of this syndromes discovery was in 1442 by a doctor named Harry Klinefelter and his co-workers when they first described the features that is known as Klinefelter Syndrome. Klinefelter syndromes symptoms are diagnosed according to what causes Klinefelter syndrome. The syndrome is not inherited it is a random mutation. Doctors after diagnosis, will prescribe/suggest treatment that will not get rid of the syndrome. Klinefelter syndrome is generally found in any age of the male sex.
Von Recklinghausen’s disease is a disorder that genetic disorder that is commonly passed on through many generations. Another name for this disorder is neurofibromatosis type one (NF1) (Reynolds, Browning, Nawroz, & Campbell, 2003). NF1 is estimated to affect approximately one in every 3,000 people (Reynolds, Browning, Nawroz, & Campbell, 2003). Since the mid 1900s, medical researchers, genetic scientists, and neuroscientists have been working to learn as much as possible about this disease.
Kartagener’s syndrome is a clinical triad of situs inversus, Bronchiectasis and sinusitis which is under a group of disorder called primary ciliary dyskinesias (PCD). It is rare disease predominantly inherited as an autosomal recessive in which ciliary dysfunction leading to impaired mucociliary clearance. Situs inversus totalis occurs in 50 % of PCD patients. Sickle cell disease is an autosomal recessive disease where mutation of gene for the beta subunit of the hemoglobin protein i.e. glutamic acid, is replaced by valine to change its structure and function of RBC. We would like to present a case of Kartagener syndrome accompanied by sickle cell disease.