In the United States alone, one in twenty-six people will be diagnosed with epilepsy in their lifetime. This means that around 150,000 people find out each year they are afflicted with this disorder. Epilepsy is a neurological disorder caused by malfunctioning nerve cells within the brain and nervous system. Juvenile myoclonic epilepsy (JME) is a variation of this disorder, appearing mainly in children ages 12 to 18. This disorder is caused when the ion channels in the nerves cells that regulate cell communication are not produced in the correct amount. When this happens, signaling is not controlled and leads to overstimulation. Some symptoms resulting from this include mild muscle jerks, or larger tonic-clonic seizures. What mainly causes
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Also known as the “gamma-aminobutyric acid (GABA) A receptor, alpha 1” , this gene is responsible for instructions for a piece of a GABAA receptor protein (GABRA1 gene). This protein is made up of five subunit proteins, which are each made from different genes. The GABRA1 gene codes for the alpha 1 subunit (α1). This receptor protein forms a pore within the plasma membrane, allowing chloride ions to flow into the cell. The healthy function of this protein is to allow GABA, a neurotransmitter, attach to the GABAA receptor, and thus opening the pore allowing chloride ions to pass through. This process helps prevent the brain from being overloaded with too many signals that are being transmitted. When the mutation happens within this gene, the code for the protein changes by just one amino acid in the α1 subunit. Alanine, which is usually in position 322 in the amino chain, is replaced by another amino acid called Asparagine. This ends up with an abnormal subunit, and inevitably reduces the receptor function. With the reduction in function, signaling between the neurons is not regulated, and leads to overstimulation of those neurons. Similarly with EFHC1, the inheritance pattern isn’t entirely understood, however there is more information on the GABRA1 gene. It is “inherited in an autosomal dominant pattern” (GABRA1 gene). This essentially means that one copy of the altered gene in each cell is enough to cause the …show more content…
Children going through this disorder have to live with the constant fear of a seizure if they aren’t careful. JME is a disorder that affects the ion channels of the plasma membrane in our nerve cells, and can cause overstimulation leading to muscle jerks and seizures. It isn’t a very widespread disorder, however there is still research currently taking place. An example of this is a study done by Dalin T. Pulsipher and a team of scientists. They examined “…recent-onset JME [subjects] compared to healthy control subjects,” (Pulsipher 2009). Using MRI technology, they tested the brain waves of these subjects, and found that some major functions were impaired in those with JME. With these studies that are conducted, much is learned about the disorder itself, however not a lot of information is gained on how to treat it. Medications can be taken, but there is no definite cure. JME isn’t totally inhibiting for the patient, and can be lived with. Albeit, there is still hope for a cure in the future for this developing
Also known as the “gamma-aminobutyric acid (GABA) A receptor, alpha 1” , this gene is responsible for instructions for a piece of a GABAA receptor protein (GABRA1 gene). This protein is made up of five subunit proteins, which are each made from different genes. The GABRA1 gene codes for the alpha 1 subunit (α1). This receptor protein forms a pore within the plasma membrane, allowing chloride ions to flow into the cell. The healthy function of this protein is to allow GABA, a neurotransmitter, attach to the GABAA receptor, and thus opening the pore allowing chloride ions to pass through. This process helps prevent the brain from being overloaded with too many signals that are being transmitted. When the mutation happens within this gene, the code for the protein changes by just one amino acid in the α1 subunit. Alanine, which is usually in position 322 in the amino chain, is replaced by another amino acid called Asparagine. This ends up with an abnormal subunit, and inevitably reduces the receptor function. With the reduction in function, signaling between the neurons is not regulated, and leads to overstimulation of those neurons. Similarly with EFHC1, the inheritance pattern isn’t entirely understood, however there is more information on the GABRA1 gene. It is “inherited in an autosomal dominant pattern” (GABRA1 gene). This essentially means that one copy of the altered gene in each cell is enough to cause the …show more content…
Children going through this disorder have to live with the constant fear of a seizure if they aren’t careful. JME is a disorder that affects the ion channels of the plasma membrane in our nerve cells, and can cause overstimulation leading to muscle jerks and seizures. It isn’t a very widespread disorder, however there is still research currently taking place. An example of this is a study done by Dalin T. Pulsipher and a team of scientists. They examined “…recent-onset JME [subjects] compared to healthy control subjects,” (Pulsipher 2009). Using MRI technology, they tested the brain waves of these subjects, and found that some major functions were impaired in those with JME. With these studies that are conducted, much is learned about the disorder itself, however not a lot of information is gained on how to treat it. Medications can be taken, but there is no definite cure. JME isn’t totally inhibiting for the patient, and can be lived with. Albeit, there is still hope for a cure in the future for this developing