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Recent studies of tay sachs
Recent studies of tay sachs
Case study on tay-sachs disease
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History and Physical Findings
John Doe and Kristal Doe, a young and healthy, non-consanguineous couple, were expecting their first child. Genetic testing was not recommended, as they had no knowledge of heritable disease in their family histories. The fetus developed normally and a healthy baby girl named Mary Doe was born. She developed normally for the first six months at which point she had learned to roll over and lift her head, but her mother noticed that she was startled easily. Mary Doe subsequently started missing developmental milestones. Around the age of one, Mary’s parents started noticing a developmental decline characterized by spastic movements of the limbs, stiff and flexed limbs, inability to lift her head and roll over, labored breathing, difficulty eating, and decreased interest in her surroundings. ohn Doe and Kristal Doe took Mary to the pediatrician who noticed a red spot in her eye and ordered genetic testing, which confirmed the diagnosis of Tay-Sachs disease. The family was told that there is no cure for this progressive genetic disorder, and in the months that followed, they could only keep Ashley comfortable as her symptoms slowly worsened with regular seizures, inability to move, and inability to eat, until her death just shy of her second birthday1.
Background
Disease Etiology
Tay-Sachs disease (TSD) is a fatal autosomal recessive condition caused by a β-hexosaminidase A (HEXA) enzyme deficiency. HEXA deficiency is associated with greater than 100 mutations affecting gene HEXA, which is located on chromosome 152,3. The associated mutations are varied, including: duplications, insertions, small deletions, single base substitutions, etc.3. This disorder is neurodegenerative and can man...
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...es all of these different mutations together is that they involve the HEXA gene on Chromosome 15. This gene is responsible for the HEXA enzyme that is necessary for the breakdown of GM2 gangliosidoses. Without this functional HEXA enzyme, lysosomal storage problems, like TSD, arise and lead to degeneration.
5. How does Tay-Sachs disease demonstrate the genetic principle of variable expressivity?
Tay-Sachs disease can be classified into three different categories depending on the period of life in which the symptoms manifest. Each category is similar in that they are all progressive neurodegenerative disorders. The younger the individual is when the symptoms begin however, the more severe the symptoms and the disease progresses quicker. This could be due to the point of central nervous system development in which the degeneration of neurons starts to occur.
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
Tay-Sachs disease is a neurodegenerative disorder that is known to be genetically inherited. Both children and adults may suffer from this neurological disease, but it is most common in children (Percy, 1999). This disease causes abnormal brain development in individuals who are affected by this disease. This disease is known to get progressively worse, and unfortunately leads to death. Due to the rapid progression of this disease, the life expectancy is no more than five-six years of age due to complications related to the disorder (Percy, 1999).
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
It is characterized by normal early growth and development followed by a slowing of development, the loss of purposeful use of the hands, slowed brain and head growth, problems with walking, seizures, and intellectual disability.
The X-linked form of Emery-Dreifuss muscular dystrophy is caused by the EMD gene that codes for the ubiquitous protein called Emerin. The EMD gene is found on chromosome Xq28. The gene responsible for the X-linked form was identified in 1994. It is located on chromosome Xq28. The STA gene is 2100 bp in length, consists in six exons and encodes 762 bp mRNA. Its 34 kD protein product of 254 amino acids has been designated 'emerin'. Emerin is a protein that is part of the laminar-association protein family. Th...
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...
ALS or Lou Gehrig’s disease attacks the muscles of the body. Typically, symptoms don’t usually begin until the age of 50 or older. However, it’s possible to show symptoms at a younger age. It is a disease that progresses extremely fast. Unfortunately as the disease progresses, loss of muscle strength get worse. The reduction of the muscle strength slowly gets worse until paralysis or death. The following are symptoms of ALS: muscle cramps, muscle weakness, difficulty with breathing and difficulty with swallowing. Other symptoms include slurring of words, hoarseness, and weight loss. ALS does not affect the five senses of the body. Eventually, Lou Gehrig’s Disease will prevent the body from doing everyday activities such as driving, climbing stairs, and eating.
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.
Lewis, Ricki, (2014), Human Genetics, 11th Edition, Chapter 12. Gene Mutation. [VitalSource Bookshelf Online]. Retrieved from
According to Hassold and Sherman (2002), the probability of giving birth to a child with DS is not linked to any race, ethnicity, socioeconomic status or geographic location. Maternal age seems to be the only etiological factor that may cause DS. Some characteristics of DS include: deep folds at the corners of the eyes, hypotonia, short stature, flexible joints, small oral cavity and heart defects (Taylor, Richards, & Brady, 2005). Most individuals with DS have a moderate intellectual disability, although there is a range of disability, from severe to high functioning (IQ above 70). Since DS is a birth defect and not a disease, there are no treatment options.
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.
Since the gene for HD is dominant, there is a 50% chance of a sufferer's
Dementia is commonly differentiated along two dimensions: age and cortical level. The first dimension, age, distinguishes between senile and presenile dementia. Senile dementia is used to describe patients who become demented after the age of 65, whereas presenile dementia applies to patients who become demented prior to that age. Late onset AD (LOAD) also known as senile dementia Alzheimer's type (SDAT) is the predominant cause of senile dementia. Early onset AD (EOAD) is the most frequent cause of presenile dementia, but HD, Pick's disease and Creutzfeldt-Jakob disease though not as frequent are also important causes in presenile dementia.