The discoveries of Warren Tay and Bernard Sachs in 1881 and 1887 laid the groundwork for our current understanding of the disease that has plagued the Jews for generations. Named after these foundational researches, Tay-Sachs disease is a lysosomal storage disorder (LSD) that causes severe mental degeneration in the affected individuals (Valsamis and Valsamis 1963). The nature of the disease’s inheritance and the history of Eastern European Jews in small crammed communities and their resistance to tuberculosis lends to the idea that Tay-Sachs disease is a balanced polymorphism similar to that of sickle-cell anemia and glucose-6-phosphate dehydrogenase deficiency (G6PD deficiency) which both offer protection against malaria for those who are …show more content…
Phagocytosis occurs when a cell consumes some cell or bacterial particle and forms a phagosome. The lysosome then fuses with this phagosome and releases its hydrolytic enzymes into the vacuole, which then digests the particles. Autophagy occurs when the lysosome fuses with a vesicle that has damaged organelles which are then digested by the enzymes in the lysosome (Reece et al. 2008). Deficiencies of any of the lysosomes’ enzymes will result in some form of abnormal storage of the macromolecules that these specialized enzymes are designed to break down (Howlin …show more content…
Lipids are stored as energy reserves, but the accumulation of lipids is harmful to the organs of the body (Hannigan 2007). There are two forms of Tay-Sachs disease, the infantile and the juvenile adult form. Both occur as a result of a mutation that occurs in the HEXA gene, the gene that codes for the enzyme hexosaminidase A, that result in the buildup of the GM2 ganglioside lipid in the nervous system (Myerowitz 1988). Gangliosides are glycosphingolipids, a type of molecule containing hydrophobic and hydrophilic parts that is present on animal cell membranes, that contain one or more sialic acid residues, which is a type of acid that has a 9-carbon foundation. These lipids are most concentrated on the neurons of the brain, but are found throughout the body. Studies show that these lipids are vital in embryonic development as well as many other processes, even being involved in the interactions between neurons and growth factors and neurotransmitters (Goodman et al. 1991, Proia
Tay-Sachs disease is a rare hereditary disease found mainly in infants but is also found in juveniles and adults. It is caused by the abnormal metabolism of fats and is characterized by mental deterioration, blindness, and paralysis. There is no available treatment for this disease.
Although Tay-Sachs is an extremely rare disease it is most evident in people with Ashkenazi Jewish origin from eastern Europe and those with a Cajun heritage have a higher rate of being a carrier than any other group. Ashkenazi Jews and people of Cajun heritage have a carrier rate for Tay-Sachs disease of 1 in 17 people. However, 1 in every 25 people of Ashkenazi Jewish heritage have Tay-Sachs disease, including carriers of the disease. Another sad and interesting fact about Tay-Sachs disease is that children lose their ability to smile. While Tay-Sachs is a terrible and sad disease with barely no miracles, one miracle stands out and that is the oldest living child to ever live with Infantile Tay-Sachs. Seth England, 9 years old, is the oldest living child to have Infantile Tay-Sachs disease. Seth’s disease was discovered by his eye doctor and was later confirmed by the Mayo Clinic of Rochester, Minnesota. Despite the miracle of having lived so long with Tay-Sachs disease, Seth is only 70 lbs, can not talk or move and needs round the clock care his
Lerner, K. L. & Lerner, B. W., (2008). Tay-Sachs disease. The Gale Encyclopedia of Science (4th ed.). Detroit
The mindset of every living organism is to survive and reproduce. As such, it may be surprising to hear that diseases actually plays a crucial role in the survival of our predecessors. In the book Survival of the Sickest, Dr. Sharon Moalem discusses the role these hereditary disorders played in keeping our very ancestors alive. Three examples mentioned in the reading selection include hemochromatosis, diabetes, as well as favism. All the diseases I mentioned had a specific aspect, to which I found particularly appealing. In the case of hemochromatosis, I found it intriguing how the author used his own life to draw a connection between the two traits. Dr. Sharon Moalem lost his grandfather to hemochromatosis and later was diagnosed with the
In the book it says "They can spend a whole lifetime worrying whether they 're carriers, and then we come along and offer them a test. Recessives and X-linked. Look what they 're doing with fragile-X nowadays. And cystic fibrosis. Just imagine the commercial possibilities if you can design and patent a probe for something like Gaucher 's disease...(69)" Recessive traits is the phenotype is seen only a homozygous recessive genotype for the traits of the interest is present. The booked talked about two of three diseases that are most common in the Ashkenazi Jewish population. The first one is Cystic fibrosis which is an inherited life-threatening disorder that effects the lungs and the digestive system. The other one mention in the book that wasn’t mention in class was Gaucher 's disease. Gaucher 's disease is a build up of fatty substances in your organs, usually in you spleen and liver. Which causes them to become bigger affecting their function. The last one that we learned in class was Tay-Sachs disease, which is a rare inherited disorder that destroys nerve cells in the brain and spinal
The T4 program was not the beginning of Germany’s effort to reach a super race. Leading up to the war Hitler enacted the “Law for the Prevention of Progeny with Hereditary Diseases” in the year of 1933. The law called for the sterilization of anyone that had any hereditary illnesses. The list of hereditary illnesses included: “schizophrenia, epilepsy, senile disorders, therapy resistant paralysis and syphilitic diseases, retardation, encephalitis, Huntington’s chorea and other neurological conditions.” (History Place) This law was enforced by opening 200 genetic health courts that would analyze the medical records of individuals and decide if they were to be sterilized or not. The sterilization of people usually involved the use of drugs, x-rays, or uterine irritants. Dr. Horst Schumann did a lot of these experiments with sterilization at Auschwitz, where he would take a group of men/women and would expose them to x-rays. Most of his experiments with x-rays were disappointing but he kept using this method. After he subjected his subjects to x...
According to www.medterms.com , ALS is defined as “a classic motor neuron disease. Motor neuron diseases are progressive chronic diseases of the nerves that come from the spinal cord responsible for supplying electrical stimulation to the muscles. This stimulation is necessary for the movement of body parts.” “1 out of 10 cases are a genetic defect” (Amyotrophic lateral sclerosis- National Library of Medicine, 2012). The other nine times, the cause of cannot be determined.
Francis S. Collins is a renowned geneticist who originally became Ph.D in Physical Chemistry at Yale University and later on, a Medical Doctor at University of North Carolina. As soon as he graduated he was offered a fellowship in Human Genetics at Yale University under the guidance of Sherman Weissman, currently Sterling Professor of Genetics. In the late 1980’s Collins became known in the field of Medical Genetics for his development of positional cloning, a technique that allows to locate a hereditary disease-causing gene by studying the inheritance pattern within a family. Working with his method researchers found the genes responsible for diseases like Cystic fibrosis, Huntington’s disease, Neurofibromatosis, Multiple Endocrine Neoplasia type one, and Hutchinson-Gilford Progeria Syndrome. In 1993 Dr. Collins succeeded Dr. James D. Watson as the director of the National Human Genome Research Institute (NHGRI), overseeing the role of the United States in the mapping of the human genome. In 2009 President Obama personally recommended Collins to lead the National Institute of Health (NIH) where he works until present day. Francis S. Collins is by no means a bragging individual, bits and pieces of his accomplishments are scattered throughout the book and he makes no big deal about it; instead he j...
In the continent Africa, about 1 in 100 individuals develops this disease. We ask ourselves why is the frequency of a potentially fatal disease so much higher in Africa? The answer is related to another deadly disease, which is called malaria. Chills, fever, vomiting, and severe headaches characterize malaria (GENETICS Sickle Cell Case Study. (n.d.). 2000, October 19). Malaria is caused by a disgusting parasite called Plasmodium that is transmitted to humans by mosquitos. When the malaria parasites invade the bloodstream, the red blood cells that contain defective hemoglobin get sickle cell out and die (Facts About Sickle Cell Disease. 2014, January 16). This helps protect the individual with Sickle Cell Anemia from an infection of malaria. As you can see, this is why a variety of areas in the world has a high rate of malaria, such as
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.
Gaucher disease is an inherited, chronic, progressive genetic disorder. People diagnosed with Gaucher disease lack an enzyme known as glucocerebrosidase (Bennett, 2013). It is the most common condition within the lysosomal storage order diseases (Chen, 2008). Glucocerebrosidase helps break down glucocerebreside, a fatty substance stored or accumulated inside the lysosome (Enderlin, 2003). This causes the cells to become bloated and is visible under a microscope. It is estimated that about 1 in 40,000 to 60,000 have Gaucher disease or about 10,000 people worldwide (Hughes, 2013). In addition, Gaucher disease has a higher frequency among Jews of Ashkenazi (Eastern European) decent: up to 1 in 450 people.
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.
Imagine if you loss control of your body but your mind stayed unaffected. You would be a prisoner in your own body, all leading up to your death sentence. That is the sad fate for the people diagnosed with Amyotrophic lateral sclerosis (ALS). “Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder was first described by Ran in 1850. This description was then expanded in 1873 by Charcot, who emphasized the involvement of the corticospinal tracts. In the United States, ALS is often referred to as Lou Gehrig's disease, after the famous ball player who was stricken by the disease in the midst of his career. (Yale School of Medicine, 2014)” In this paper will go through the definition, the process, the signs, the risk factors, etiology, and discus the known people that have suffered with this terminal disease.
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.
There are many functions lipids have. One of the main functions lipids are structural components in the cell. Lipids make up approximately 50% of the mass of most cell membranes. The lipids that are found in the cell membrane are called phospholipid. Phospholipid are the predominant lipids of cell membrane. Phospholipids aggregate or self-assemble when mixed with water, but in a different manner than the soaps and detergents. Because of the two pendant alkyl chains in phospholipids and the unusual mixed charges in their head groups, micelle formation is unfavorable relative to a bilayer structure.