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The biochemistry of tay sachs disease

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Dvane Coutinho
Dvane Coutinho

Tay- Sachs disease is an autosomal recessive fatal genetic disorder, that progressively destroys nerve cells in the brain and spinal cord.

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By Thandie Barretto Vidyashree. S McRalph Mendes THE BIOCHEMISTRY OF TAY - SACHS DISEASE
Overview ï‚— Introduction ï‚— The biochemistry and genetics ï‚— Signs and symptoms ï‚— Diagnosis and treatment ï‚— Summary ï‚— References
Introduction ï‚— Tay- Sachs disease is an autosomal recessive fatal genetic disorder, that progressively destroys nerve cells in the brain and spinal cord. ï‚— Also known as GM2 gangliosidosis or hexosaminidase A deficiency. ï‚— It is caused due to the deficiency of beta- hexosaminidase A and accumulation of GM2 gangliosides in the nerve cells and brain. ï‚— The disease was characterized by two doctors working independently; Warren Tay, a British opthalmologist and Bernard Sachs, an American neurologist. ï‚— Most common among Ashkenazi Jews of Eastern Europe,Cajun community and French Canadians.
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The Biochemistry and Genetics ï‚— Beta- hexosaminidase A plays an important role in the central nervous system and is found in lysosomes. ï‚— Beta-hexosaminidase A breaks down a fatty substance called GM2 ganglioside. ï‚— The mutations in the HEX-A gene disrupt the activity of the beta- hexosaminidase A, which in turn prevents the enzyme from breaking down GM2 ganglioside. ï‚— As a result, this substance accumulates in the neurons in the brain and spinal cord to toxic levels and this leads to destruction of neurons.
Tay Sachs is an inherited disease that occurs only if both parents are carriers of the Tay Sachs gene. A child who inherits two Tay Sachs genes, one from each parent, produces a non functional HEX-A enzyme and hence develops Tay Sachs disease. http://the-medical-dictionary.com/fanconi_s_anemia.htm
Signs and Symptoms ï‚— Appearance of Cherry Red Spot in the retina. ï‚— When the infant is six months of age, he/she becomes less alert and less responsive to stimuli. ï‚— The infant gradually regresses, becomes weak and is unable to crawl or sit ï‚— Seizures and paralysis ï‚— Unresponsive vegetative state followed by death at the age of 4 or 5 years. ï‚— Muscle weakness, loss of muscle coordination, speech problems, and mental illness are symptoms of juvenile and adult late onset forms.
Diagnoses and Treatment ï‚— A simple blood test can identify Tay Sachs carriers. ï‚— These blood samples can be analyzed by enzyme assay, where the levels of HEXA are measured ï‚— Genetic testing using polymerase chain reaction ï‚— Eye exams can help. ï‚— Presently there is no cure for Tay Sachs disease. ï‚— Anticonvulsant medicine can control seizures. ï‚— Proper nutrition and hydration and techniques to keep the airway open. ï‚— Enzyme replacement and bone marrow transplant. ï‚— The affected individual will eventually die from recurring infection.
SUMMARY ï‚— Tay sachs disease is an autosomal recessive disorder ï‚— It is caused due to accumulation of GM2 gangliosides. ï‚— The symptoms include reduced alertness, unresponsive to stimuli, seizures and paralysis. ï‚— The disease can be diagnosed by blood tests, genetic testing and eye tests. ï‚— There is no real cure for this disease but the patient can be treated to some extent
References ï‚— National human genome research institute. (n.d.). learning about Tay Sachs. Retrieved august 24, 2015, from genome.gov: https://www.genome.gov/10001220 ï‚— National Tay Sachs and allied diseases. (n.d.). Tay sachs disease. Retrieved august 24, 2015, from tay_sachs.org: http://www.tay-sachs.org/taysachs_disease.php ï‚— kids health. (n.d.). tay_sachs.html. Retrieved august 25, 2015, from kidshealth.org: http://kidshealth.org/parent/medical/genetic/tay_sachs.html# ï‚— Genetic Home reference. (n.d.). Tay Sachs disease. Retrieved august 24, 2015, from ghr.gov: http://ghr.nlm.nih.gov/condition/tay-sachs-disease ï‚— Center, V. (n.d.). Ashkenazi Jews genetic disease. Retrieved August 25, 2015, from Jewish virtual library:
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The biochemistry of tay sachs disease

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The biochemistry of tay sachs disease

  • 1. By Thandie Barretto Vidyashree. S McRalph Mendes THE BIOCHEMISTRY OF TAY - SACHS DISEASE
  • 2. Overview ï‚— Introduction ï‚— The biochemistry and genetics ï‚— Signs and symptoms ï‚— Diagnosis and treatment ï‚— Summary ï‚— References
  • 3. Introduction ï‚— Tay- Sachs disease is an autosomal recessive fatal genetic disorder, that progressively destroys nerve cells in the brain and spinal cord. ï‚— Also known as GM2 gangliosidosis or hexosaminidase A deficiency. ï‚— It is caused due to the deficiency of beta- hexosaminidase A and accumulation of GM2 gangliosides in the nerve cells and brain. ï‚— The disease was characterized by two doctors working independently; Warren Tay, a British opthalmologist and Bernard Sachs, an American neurologist. ï‚— Most common among Ashkenazi Jews of Eastern Europe,Cajun community and French Canadians.
  • 5. The Biochemistry and Genetics ï‚— Beta- hexosaminidase A plays an important role in the central nervous system and is found in lysosomes. ï‚— Beta-hexosaminidase A breaks down a fatty substance called GM2 ganglioside. ï‚— The mutations in the HEX-A gene disrupt the activity of the beta- hexosaminidase A, which in turn prevents the enzyme from breaking down GM2 ganglioside. ï‚— As a result, this substance accumulates in the neurons in the brain and spinal cord to toxic levels and this leads to destruction of neurons.
  • 6. Tay Sachs is an inherited disease that occurs only if both parents are carriers of the Tay Sachs gene. A child who inherits two Tay Sachs genes, one from each parent, produces a non functional HEX-A enzyme and hence develops Tay Sachs disease. http://the-medical-dictionary.com/fanconi_s_anemia.htm
  • 7. Signs and Symptoms ï‚— Appearance of Cherry Red Spot in the retina. ï‚— When the infant is six months of age, he/she becomes less alert and less responsive to stimuli. ï‚— The infant gradually regresses, becomes weak and is unable to crawl or sit ï‚— Seizures and paralysis ï‚— Unresponsive vegetative state followed by death at the age of 4 or 5 years. ï‚— Muscle weakness, loss of muscle coordination, speech problems, and mental illness are symptoms of juvenile and adult late onset forms.
  • 8. Diagnoses and Treatment ï‚— A simple blood test can identify Tay Sachs carriers. ï‚— These blood samples can be analyzed by enzyme assay, where the levels of HEXA are measured ï‚— Genetic testing using polymerase chain reaction ï‚— Eye exams can help. ï‚— Presently there is no cure for Tay Sachs disease. ï‚— Anticonvulsant medicine can control seizures. ï‚— Proper nutrition and hydration and techniques to keep the airway open. ï‚— Enzyme replacement and bone marrow transplant. ï‚— The affected individual will eventually die from recurring infection.
  • 9. SUMMARY ï‚— Tay sachs disease is an autosomal recessive disorder ï‚— It is caused due to accumulation of GM2 gangliosides. ï‚— The symptoms include reduced alertness, unresponsive to stimuli, seizures and paralysis. ï‚— The disease can be diagnosed by blood tests, genetic testing and eye tests. ï‚— There is no real cure for this disease but the patient can be treated to some extent
  • 10. References ï‚— National human genome research institute. (n.d.). learning about Tay Sachs. Retrieved august 24, 2015, from genome.gov: https://www.genome.gov/10001220 ï‚— National Tay Sachs and allied diseases. (n.d.). Tay sachs disease. Retrieved august 24, 2015, from tay_sachs.org: http://www.tay-sachs.org/taysachs_disease.php ï‚— kids health. (n.d.). tay_sachs.html. Retrieved august 25, 2015, from kidshealth.org: http://kidshealth.org/parent/medical/genetic/tay_sachs.html# ï‚— Genetic Home reference. (n.d.). Tay Sachs disease. Retrieved august 24, 2015, from ghr.gov: http://ghr.nlm.nih.gov/condition/tay-sachs-disease ï‚— Center, V. (n.d.). Ashkenazi Jews genetic disease. Retrieved August 25, 2015, from Jewish virtual library: