HEXA

the hexosaminidase-A (HEXA) enzyme. There are over 120 mutations of the HEXA gene that cause the disease, because the mutations reduce or eliminate activity of the beta-hexosaminidae-A enzyme. The HEXA enzyme is essential for the process of hydrolysis of GM2 ganglioside to take place. The hydrolytic HEXA enzyme, in a healthy individual, plays a large part in the process of breaking down glycolipids in the lysosomes of the cell. With the aid of other enzymes in the cell, the HEXA enzyme is responsible

the infant could be born paralytic. At juvenile age, the child may experience cognitive and motor skill deterioration. Motor speech, muscle movement, and swallowing are all non-apparent in the juvenile. Genetically, Tay-Sachs disease is caused by the HEXA gene. This gene provides instructions for making enzyme, beta-hexosamindase A, which is essential in brain, nerve, and spinal cord development. Mutations in this gene cause the beta-hexosamindase A from breaking down GM2 ganglioside which results in

Should the Vaccine Infanrix-Hexa be Compulsory for Infants in New Zealand? Infanrix-hexa is a combined vaccine that protects against diphtheria, tetanus, pertussis (whooping cough), polio, hepatitis B and Haemophilus influenzae type b (Hib). The vaccine in New Zealand is suggested to be taken at the ages of 6 weeks, 3 months and 5 months as shown by the National Immunisation schedule, with booster shot required later in life. All of the first three shots are required to be taken, in order for the

The cell is the basic unit of life in eukaryotic organisms. The inside of the cell is comprised of multiple subunits called organelle that all function together to maintain homeostasis and function. Each individual organelle is assigned a specific task and purpose for the cell. These tasks and purposes can range from structural support all the way to the disposal of malfunctioning organelle.1 Similarity to a machine, if one part stops functioning to full potential, serious if not fatal consequences

It became known that it was a genetic mutation on the HEXA gene on chromosome 15 that caused the disease. he HEXA gene provides instructions for making part of an enzyme called beta-hexosaminidase A, which plays a critical role in the brain and spinal cord. This enzyme in the lysosome (works to destroy toxins and recycles waste) breaks

The HEXA gene provides instruction for making part of an enzyme called beta-hexosaminidase A, which plays a very critical role in the brain and spinal cord. This enzyme is found in the lysosomes, which are the structures in cells that break down toxic substances and their job is that of a recycling center. Beta-hexosaminidase A helps break down a fatty substance called GM2 ganglioside. The mutations in the HEXA gene disrupt the activity of beta-hexosaminidase

Daniel Compton Human Physiology April 17th 2015 Tay Sach's Disease Tay-Sachs disease is an autosomal recessive genetic disorder, which means it can be passed down parents’ genes and is located on a non-sex chromosome. The form ,ost discussed is known as infantile Tay-Sachs disease, the symptoms of which are the deterioration of mental and physical abilities, which starts affecting children at six months old and normally results in death by the age of four. It is caused by a genetic defect in a single

Errors involving ganglioside metabolism heavily impact the central nervous system due to the presence of a higher concentration of gangliosides. TSD is specifically caused by a mutation in the HEXA gene encoding the α-subunit of β-hexosaminidase A. An individual with TSD is able to transport the GM2 ganglioside from the cellular membrane to the lysosome for degradation, but is unable to process it further since the α-subunit of β-hexosaminidase

that gradually destroys nerve cells in the brain and spinal cord. Mutation in the HEXA gene on chromosome 15 causes Tay-Sachs disease. The HEXA gene gives instruction to make a part of an enzyme called β-hexosaminidase A, this enzymes plays a critical role in the brain and spinal cord. The enzyme is compromised on an

Order amish community in Pennsylvania, and the Cajun population of Louisiana, are more responsible for the mutation for this disease. The HEXA has been discovered for the cause of Tay Sachs. The gene provides for making part of an enzyme, which is cause, "beta-hexosaminidase A", which plays an important role in the spinal cord and brain. Disruptions in the HEXA gene messes with the activity of beta-hexosaminidase A, and then prevents the enzyme from breaking down GM2 ganglioside. This results the