Lacking the ability to detect harmful stimuli will lead to a greater chance of obtaining a harmful injury. Sometimes these injuries can be self-inflicted without the suffering individual being aware of the harm. The lack of degeneration of these stimuli is sometimes referred to as a neurodegenerative disorder. The technical term neurodegenerative disorders is a word that encompasses the gradual loss of neuron structure and function. The mechanisms that are attributed to neurodegeneration have not yet been completely identified. There are distinct proteins involved in neurodegeneration. These proteins affect specific molecular pathways. Various proteins that are involved in sensory neurodegeneration are a result of axon degeneration. When neurons …show more content…
Hereditary sensor and autonomic disorders (HSANs) are particular disorder that are characterized by a decrease in nociceptors, or pain sensation, and degenerations of peripheral nerves. An additional defect of neurodegenerative disorders such as HSANs may be autonomic dysfunction, which affects your autonomic nervous system. Channelopathy-associated pain insensitivity (CIP) is another rare disorder that will increase the loss of pain sensitivity. Throughout the study, next generation sequencing (NGS) was used. NGS is a technology that is making big progress in the medical field of genomics, and is attributed to the identification of many new diseases and genes. The NGS technology was used on patients who had the HSAN without mutations in the genes that are already linked to this …show more content…
In order to prevent oxidative stress due to heme build up, FLVCR1a must be present, which proves that FLVCR1a is crucial for the overall health of neurons. Throughout the experiment, it was shown that FLVCR1 mutations lower the ability of FLVCR1 to transport heme form to the cytosol, and an accumulation of heme well lead to cellular atrophy, especial to cells of sensory neurons. Heme is a very critical substance that is needed in varies processes within the body, and regulation of heme via FLVCR1 inferred that it plays an important role in neurons. Additionally, it has been concluded that a build up of heme will cause oxidative stress, and this accumulation will lead to neuropathy. Nociception is one of the fundamental senses in all life forms, and without it, chances of severe injuries are greatly increased, and could ultimately lead to death if not observed and managed
In conclusion, it is important for nurses to have proper training and information in the area of genetics and genomics so that it can be used in daily clinical practice (Thompson & Brooks, 2011). Using this information with clients and conducting a detailed genetic nursing assessment is a valuable component of being an effective health care provider and can help clients recognize, prevent, and/or treat diseases that are unique to their particular
The PBS documentary “Nova – Cracking Your Genetic Code” tells about the genome sequencing technology: its current possibilities, advantages, disadvantages and future potential. The system became cheaper, faster and more available since the first human genome was fully sequenced in 2000. Modern companies use the technology to provide clients with the information about their genes and impacts they can have on owners’ health. Hospitals can provide more accurate diagnosis and personalized treatments with the aid of the genome sequencing. The video shows several examples of these benefits. But it mentions concerns about the quality of services, risks of exaggerated
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...
Amyotrophic lateral sclerosis, also known as ALS or Lou Gehrig's disease, is a disease of the nerve cells in the brain and spinal cord that control voluntary muscle movement (Dugdale, Koch, and Zieve 2010). In ALS, nerve c...
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.
Parkinson's is an idiopathic, multifactorial neurodegenerative disease that attacks neurotransmitters in the brain called dopamine. Dopamine is concentrated in a specific area of the brain called the substantia nigra. The neurotransmitter dopamine is a chemical that regulates muscle movement and emotion. Dopamine is responsible for relaying messages between the substantia nigra and other parts of the brain to control body movement. The death of these neurotransmitters affects the central nervous system. The most common symptoms are movement related, including shaking, rigidity, slowness of movement and difficulty with posture. Behavioral problems may arise as the disease progresses. Due to the loss of dopamine, Parkinson's patients will often experience depression and some compulsive behavior. In advanced stages of the disease dementia will sometimes occur. The implications of the disease on the anatomy and physiology of the respiratory and phonatory systems significantly control speech.
performance that involves, but is not limited to, a loss in at least 2 of the
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.
In this day and age, it seems as though almost everyone has experience a loved one taken away form a very serious disease known as Alzheimer’s disease. Alzheimer’s disease is unbelievably devastating for everyone affected by it. This disease is causing major economical problems such as less occupancy in the nursing homes, and hospitals due to the rising population of elderly men and women being diagnosed with it everyday. Because there is not yet a cure for this disease and the percent of the population being diagnosed keeps rapidly rising, more time and money needs to go towards Alzheimer’s research.
Alzheimer's Disease Introduction to Alzheimer's Alzheimer's disease is a progressive, degenerative disease of the brain. It was first described by the German neuropathologist Alois Alzheimer (1864-1915). in 1905. This disease worsens with advancing age, although there is no evidence. that it is caused by the aging process.
Scientists believe that for most people, Alzheimer's results from a combination of genetics, lifestyle and environmental factors that affect the brain over time. Alzheimer's is caused by specific genetic changes that virtually guarantee a person will develop the disease. The causal effect for this disease is still unknown with fingers pointing to plaques and tangles in the brain. Although the causes of Alzheimer's are not yet fully understood, its effect on the brain is clear. Alzheimer's disease damages and kills brain cells. A brain affected by Alzheimer's disease has many fewer cells and many fewer connections among surviving cells than does a healthy brain. As more and more brain cells die, Alzheimer's leads to enormous brain shrinkage. When doctors examined an Alzheimer's brain tissue under the microscope, they saw two types of abnormalities that are considered the cause of the disease. One of these abnormalities is plaques that clump up, a protein called beta-amyloid which damages and destroys brain cells. In patients with Alzheimer’s the plaques created interfere with cell to cell communication. The other abnormality seen is tangles in the brain. Brain cells depend on an internal support and transport system to carry nutrients and other essential materials throughout their long extensions. This system requires the normal structure and functioning of a protein called tau. In an Alzheimer's patient, the threads of tau protein twist into abnormal tangles inside the brain cells, leading to failure of the transport system. (Alzheimer's Association) (National Institutes of Health, 2012)
Scientists know that Alzheimer disease is characterized by a gradual spread of sticky plaques and clumps of tangled fibers that disrupt the organization of nerve cells in the brain. However , a definite cause, prevention, or cause has not been found.
James Parkinson first discovered Parkinson's Disease in 1817. Parkinson's Disease is a common neurologic disorder for the elderly. It is a disorder of the brain characterized by shaking and difficulty with walking, movement, and coordination. This disease is associated with damage to a part of the brain that controls muscle movement. Parkinson's Disease is a chronic illness that is still being extensively studied.
Thesis/Preview Statement – Alzheimer’s disease (AD) causes a decline in brain function, it destroys healthy nerve cells. Today, we have discussed Causes, Symptoms, and Diagnosis of AD.
Genetics & Personalized Medicine. (2013). University of Ottawa Heart Institute. Retrieved on February 3, 2014 from: http://www.ottawaheart.ca/research_discovery/genetics-personalized-medicine.htm