Lysosomes degrade glycogen and certain lipids in the brain at a relatively constant rate. In Tay-Sachs disease, an inherited condition seen mostly in Jews from Central Europe, the lysosomes lack an enzyme needed to breakdown a glycolipid abundant in nerve cell membranes. As a result, the nerve cell lysosomes sweel with undigested lipids, which interfere with nervous system functioning. Affected infants typically have doll-like features and pink translucent skin. At 3 to 6 months of age, the first symptoms progress to mental retardation, seizures, blindness, and ultimately death within 18 months.…
When a cell divides, it's DNA is copied error-free, but sometimes random changes occur called mutations. The changes can result in the death of the cell or allow the cell to live and continue to grow and divide. When the DNA starts to act abnormally, the cells could become cancerous and proliferate wildly through repeated, uncontrolled mitosis and cytokinesis. Some mutations are caused by carcinogens: environmental factors that cause cancer, some include, tobacco smoke, radiation, such as x-rays and UV rays from tanning beds and sunlight.…
Alzhimer's disease is a form of dementia, it is a slow progressive disease that is caused the loss of neurotransmitters such as acetylcholine, which leads to damaged and death of cholinergic neurons in the brain. This then causes a build up in the brain of amyloid plaques (a protein called amyloid) and tangles (a protein called…
Adrenoleukodystrophy is a deadly genetic disorder that affects mostly boys and men. ALD is determined when the myelin sheath that surrounds the neuron is deteriorated, damaged or simple not formed, and it is not carrying properly the neurological messages that sends the brain to the body, because there is an accumulation of saturated very long fatty acids as an immune response, our body stops moving or responding as a consequence.…
There is research that has been conducted that has however, lead some scientist to believe that it could be linked to genetics, chemical imbalances, disorganized immune response, or even mishandling of proteins. ALS affects homeostasis by causing motor neurons that are found in the spinal cord and brain to start to degenerate and die off. This causes signals to the muscles to "turn off" and the muscles become un-operable causing weakening which results in the muscle wasting away. It will eventually lead to the in-operation of the involuntary muscles such as the heart which in the end leads to…
Tay-Sachs disease is a fatal genetic disorder that results in progressive destruction of the nervous system. Tay-Sachs is caused by the absence of the enzyme hexosaminidase A (Hex-A). Without Hex-A fatty proteins build up in the brain which cause damage to the brain cells. This damage causes children to loss motor skills and mental functions which overtime can cause the children to become blind, deaf, mentally retarded and nonresponsive to the environment.…
Tay-Sachs disease is an autosomal recessive disease that affects the lysosome storage in cells. Over time, the disease deteriorates the functions of the body leading to blindness, deafness, dementia, and recurrent convulsions in the terminal stages. Unfortunately, its main victims are children, who often show the first signs and symptoms at around 6 months old and usually do not live past the age of 5. There is also a juvenile and late-onset form that may not appear until the second or third decade of life. By the year 1993 (American Medical Association), geneticists were able to identify that the cause of this disease is triggered by a mutation in the HEXA gene, located at 15q23-q24, which codes for the hexosaminidase A enzyme. Without this…
Alzheimers - is a physical disease that affects the brain. There are nore than half a million people in the UK with the disease. Alzheimers is progress when a build up of proteins in the brain lead to a loss of connection between the nerve cells. This itself causes the death of these nerve cells and the loss of brain tissue. People with alzheimers also suffer from a shortage of chemicals in their brain. Thesse chemicals are used to transmit signals around the brain. Where there is a shortage the signals are not transmitted effectively. This causes the person to have confusion over places and time and also issues with thinking and memory loss.…
Alzheimer’s disease is an irreversible, progressive brain disease that slowly destroys memory and thinking skills, and eventually even the ability to carry out the simplest tasks. In most people with Alzheimer’s, symptoms first appear after age 65. During the preclinical stage of Alzheimer’s disease, people are free of symptoms but toxic changes are taking place in the brain. Abnormal deposits of proteins form amyloid plaques and tau tangles throughout the brain, and once-healthy neurons begin to work less efficiently.…
What other diseases are thought to be caused by point mutations? What do point mutations do in those diseases?…
people whose genes put them at risk for the disease, some type of trigger starts the attack on the…
The autoimmune diseases[i] arise from an inappropriate immune response[ii] of the own immune system against substances and tissues normally present in the body. The role of the immune system is to keep the body safe from injury and invasion. It is a complex system operating at all levels[iii] from the molecular to the systemic, always with the inborn goal of maintaining the body and its functions. In autoimmune diseases, the immune system mistakes normal, healthy structures with foreign bodies, is activated against the body 's own proteins and starts destroying them. In autoimmune inflammatory diseases, it is the overreaction of the immune system, and its subsequent downstream signalling.…
When the disease goes undiagnosed and untreated for a long period of time, it may lead to neurological complications.…
“ Alzheimer’s disease first described by the German neurologist Alois Alzheimer is a physical disease affecting the brain. During the course of the disease protein plaques and tangles develop in the structure of the brain, leading to the death of brain cells.…
Primarily, this progressive disease is caused by cigarette smoking, but it can also be caused from long exposure to air pollution and genetic problems. Smoke can be exhaled by…