Adrenoleukodystrophy, or more commonly known as ALD, is an x-linked genetic disorder that is biochemically characterized by a deficiency in the ALD protein, which is an adenosine triphosphate-binding cassette transporter encoded by the ABCD1 gene. The structural components of this protein involve a hydrophobic transmembrane domain as well as a hydrophilic nucleotide-binding domain that combine to form a dimer (Berger & Gärtner, 2006). This ALD protein deficiency results in the accumulation of C24:0 and C26:0 saturated very long-chain fatty acids (VLCFAs) and C26:1 mono-unsaturated VLCFAs, which causes irreversible damage to the myelin sheath that insulates each nerve cell in the brain (Moser et al., 2005). Because myelin is unable to regenerate after being destroyed, progression of ALD gets worse over time. Because ALD is an x-linked genetic disorder, only males can acquire the disease, which is passed on from the mother. Although ALD is relatively rare, there are three specific forms that can ultimately affect males. These forms include: Childhood-onset (X-ALD), adult-onset (adrenomyeloneruopathy or AMN), and Addison’s disease. Childhood-onset X-ALD is the most severe type, affecting children between the ages of 5-12 and if left untreated, can cause death in as little as 2 years after the first onset of symptoms. In contrast, AMN and Addison’s disease are slower progressing forms of ALD resulting in milder symptoms (Deon et al., 2006). The mechanism by which VLCFAs accumulate to abnormal quantities starts out first with the defective ALD protein, which is found in the peroxisomes (Figure 1). Peroxisomes are eukaryotic organelles that function in the degradation of VLCFAs into shorter chain fatty acids. In patients with ALD, t... ... middle of paper ... ...re progressive stages of this disease (Moser, Raymond, & Dubey, 2005). Due to over 100 years of novel research on the characteristics of ALD, scientists are closer than ever before to finding an end all cure for this disease. While existing therapies exhibit great potential, there are still many risk factors that contribute to the uncertainty in the long-term effectiveness of these prevailing treatments. Nevertheless, new treatment methods are being studied such as pharmacological gene therapy, which may be able to successfully prevent damage to the nervous system in ALD patients before it happens. Even though it is not possible to prevent ALD, women who have ALD present in their family history may be able to go through genetic cocounseling and get tested via mutation analysis to know whether or not they are a carrier of the disease (Moser, Raymond, & Dubey, 2005).
Brunner and his colleagues, and upon the discovery of a particular genetic defect in male members of a large Dutch family. In this large Dutch kindred, Brunner et al. (1993) identified a novel form of X-linked nondysmorphic mild mental retardation, and he found that all of the male family members with this defect reacted aggressively when angry, fearful, and frustrated. All the affected males in the family showed characteristic abnormal behavior, in particular aggressive, and sometimes violent behavior. These males in the family displayed mild impairment of cognitive functions and some types of abnormal impulsive behavior which includes arson, attempted rape, and exhibitionism. Even attempted suicide was reported in a single case. The defect discovered was later found to be a mutation in the gene that codes for monoamine oxidase A (MAOA gene). Brunner showed that in the affected males there was a mutation in the gene for the enzyme monoamine oxidase A (MAOA). The enzyme deactivates the hormones and neurotransmitters epinephrine and norepinephrine, more commonly known as noradrenaline and adrenaline. At this time, Brunner said that an "MAO-A deficiency is associated with a recognizable behavioral phenotype that included disturbed regulation of impulsive aggression. The transmission pattern of Brunner syndrome in the families reported was consistent with X-linked recessive inheritance. A man with Brunner syndrome is what expert psychiatrists refer to as “a bad guy.”
Percy, A. K. (1999). Inherited neurodegenerative disease: The evolution of our thinking. Journal of Child Neurology, 14(4), 256-62. Retrieved from
Physiological Basis of disease: DMD is the commonest and most serious form of the dystrophies. The gene responsible for dystrophin which, when absent, causes DMD. Amount of dystrophin correlates with the severity of the disease (i.e., the less dystrophin present, the more severe the phenotype). Since the gene is on the X chromosome, it primarily affects males, and females who are carriers have milder symptoms ( www.nlm.nih.gov/medlineplus/ency/article/000705.htm).
Canavan disease is an inherited disorder that causes progressive damage to the nerve cells in the brain. It is in the group of rare genetic disorders called Leukodystrophies. Leukodystrophies are characterized by the degeneration of myelin, which is the fatty covering that insulates nerve fibers. The myelin is necessary for rapid electrical signals between the neurons. I chose this disease because I had never heard of it and it seems to only affect a very small amount of people. Also it isn’t very common so I wanted to learn more about it, which helped when looking for information
Neurodegeneration is used mainly for diseases that are characterised by progressive loss of structure and function of neurons. There are many neurodegenerative diseases including amyotrophic lateral sclerosis that...
Scriver, Charles R, Beaudet, Arthur L, Sly, William S, et al. (2001). The metabolic and molecular bases of inherited disease. 8th ed. London: McGraw-Hill. Pp 1634-1639.
1. James suffers from a condition called Duchenne muscular dystrophy. Explain the full meaning of this name.
Addison’s disease is a disorder of the endocrine system. It is a hormonal disorder that can strike anyone, any gender at any age. Addison’s disease has also been called Adrenal Insufficiency (hypocortisolism) because the root of the disease is in the adrenal gland not producing enough of the hormone cortisol, or sometimes not enough of the hormone aldosterone to satisfy the body’s needs.
The thyroid is the energy generator of the body. All of us experience fatigue at some time in our lives because of lack of sleep, overwork, or stress. For individuals with hypothyroidism, fatigue is a way of life. There never seems to be enough energy. But, you don’t have to feel this way. For those who suffer from hypothyroidism, there is HOPE.
It is estimated that 1 out of every 5,600-7,700 boys ages 5-24 have Duchene or Becker muscular dystrophy. (“Data & Statistics,” 2012 April 6) Muscular dystrophy is a group of genetic diseases defined by muscle fibers that are unusually susceptible to damage. There are several different types of muscular dystrophy some of which shorten the affected person’s lifespan. (“Muscular dystrophy: Types and Causes of each form,” n.d.) There is a long history of the disorder but until recently there wasn’t much knowledge of the cause. (“Muscular Dystrophy: Hope through Research,” 16 April 2014) Symptoms are obvious and can be seen as soon as a child starts walking. (“Muscular Dystrophy,” 2012 January 19) Although muscular dystrophy mostly affects boys, girls can get it too. (“Muscular Dystrophy,” 2012 January 19) There is no cure for muscular dystrophy but there are several types of therapy and most types of muscular dystrophy are still fatal. (“Muscular Dystrophy: Hope through Research,” 16 April 2014)
Alzheimer’s disease is a complex illness that affects the brain tissue directly and undergoes gradual memory and behavioral changes which makes it difficult to diagnose. It is known to be the most common form of dementia and is irreversible. Over four million older Americans have Alzheimer’s, and that number is expected to triple in the next twenty years as more people live into their eighties and nineties. (Johnson, 1989). There is still no cure for Alzheimer’s but throughout the past few years a lot of progress has been made.
...hromosome and the disease/disorder is passed down in an X linked recessive fashion. Symptoms include muscle weakening and wasting, and pain in the lower body. Mostly only the lower body’s muscles are affected causing the child to have to be confined to a wheelchair. The best way to diagnose Duchenne Muscular Dystrophy is by doing a muscle biopsy to test for abnormal dystrophin levels. There is no treatment for the disease/disorder itself, but only for the symptoms of it. The average age of death in males with Duchenne Muscular Dystrophy is the late thirty’s. Most deaths are caused by breathing complications or heart problems like cardiomyopathy. Duchenne Muscular Dystrophy on average affects one in thirty five hundred male births worldwide. Overall, Duchenne Muscular Dystrophy is very hard to live with and affects many boys around the world.
“Alzheimer's disease is a progressive, degenerative disorder that attacks the brain's nerve cells, or neurons, resulting in loss of memory, thinking and language skills, and behavioral changes” (Alzheimer’s Foundation of America, 2014). AD is a debilitating disease that interferes with the individual’s quality of life and often causes distress to the loved ones around them. The cause of AD is unknown; however, there are some factors that put individuals at risk for developing AD such as: age (gre...
...t one has it. Many scientists hypothesize that there is an inflammatory response in the brain when there is an extensive B-42 amassing. To slow or stop this, scientists theorize that the use of anti-inflammatory drugs, such as aspirin, could delay the swelling in the brain. Also, as scientists have known that taking a multi-vitamin tablet each day is good for you, there has been recent research demonstrating that the use of antioxidants may protect neurons, not just the immune system and keeping the body healthy by providing vitamins and minerals. These special supplements protect the neurons from the effects of the accruing B-Amyloid that would likely cause the plaque that causes AD.
The thyroid gland is part of the endocrine system, and it is controlled by the pituitary which is known as the “master gland” of the endocrine system. The pituitary controls the thyroid by producing Thyroid Stimulating Hormone (TSH) which stimulates the production of thyroid hormones. . The thyroid gland secretes two main hormones: Thyroxine (T4) and Tri-Iodothyronine (T3). These hormones increase metabolic rate, heat production, oxygen consumption, appetite, growth hormone secretion, alertness and quicker reflexes. The thyroid gland is located in the anterior portion of the neck, beneath the Adam’s apple. It is divided in two lobes on either side of the windpipe: right lobe and left lobe. These lobes create what looks like a butterfly shape. The gland is essential to the contribution of maintaining the homeostasis of the body. It plays a role in monitoring the body’s expenditure of energy and running the body’s metabolism.