The protein that was concluded was laforin isoform x4. The disease that is associated with this protein is myoclonic epilepsy of lafore (Genes and mapped n.d.). Lafora myoclonus epilepsy is a brain disorder which there is a reoccurrence of seizures (epilepsy) (Lafora progressive n.d.).This is used to explain the symptoms which include sudden episodes of involuntary twitching and muscle jerking that can affect only parts of the body or the body as a whole. This can occur while one’s body is resting and can be worsened by movement, enthusiasm, or by a flashing light (photos). In the later state of this disease, this can happen all of the time and affect the entire body without control (Lafora progressive n.d.). There are several types of seizures
…show more content…
These seizures affect the whole body which can result in losing consciousness and having muscle rigidity. Another type of seizure that can occur is called status epilepticus. This is explained as being life threatening and is one experiences a continuous state of seizure activity which can last longer than several minutes. Some more symptoms are that this disease can be causes by mutations in the EPM2A gene or the NHLRC1 gene (Lafora progressive n.d.).Dysfunction in the EPM2A gene will prevent cells from producing function laforin (Lafora progressive n.d.). The NHLRC1 gene mutations prevents the production of working malin (Lafora progressive n.d.) When there is a loss of laforin or malin, it can result in the death of neurons which can eventually interfere with the normal functions of the brain. These two genes provide details for making laforin and malin proteins. These proteins play a crucial role in the survival of certain nerve cells located in the brain. These two proteins have many functions. One example is that they help regulate the production of glycogen. They may also help to prevent a dangerous buildup of glycogen in tissues that are not use to store the molecule (Lafora progressive n.d.) This condition is inherited in what is known as an autosomal recessive
These seizures affect the whole body which can result in losing consciousness and having muscle rigidity. Another type of seizure that can occur is called status epilepticus. This is explained as being life threatening and is one experiences a continuous state of seizure activity which can last longer than several minutes. Some more symptoms are that this disease can be causes by mutations in the EPM2A gene or the NHLRC1 gene (Lafora progressive n.d.).Dysfunction in the EPM2A gene will prevent cells from producing function laforin (Lafora progressive n.d.). The NHLRC1 gene mutations prevents the production of working malin (Lafora progressive n.d.) When there is a loss of laforin or malin, it can result in the death of neurons which can eventually interfere with the normal functions of the brain. These two genes provide details for making laforin and malin proteins. These proteins play a crucial role in the survival of certain nerve cells located in the brain. These two proteins have many functions. One example is that they help regulate the production of glycogen. They may also help to prevent a dangerous buildup of glycogen in tissues that are not use to store the molecule (Lafora progressive n.d.) This condition is inherited in what is known as an autosomal recessive