Preview

Aspa Gene Canavan Disease

Satisfactory Essays
Open Document
Open Document
86 Words
Grammar
Grammar
Plagiarism
Plagiarism
Writing
Writing
Score
Score
Aspa Gene Canavan Disease
Mutations in the ASPA gene cause Canavan disease. The ASPA gene provides instructions for making an enzyme called aspartoacylase. This enzyme normally breaks down a compound called N-acetyl-L-aspartic acid (NAA), which is predominantly found in neurons in the brain. The function of NAA is unclear. Researchers had suspected that it played a role in the production of the myelin sheath, but recent studies suggest that NAA does not have this function. The enzyme may instead be involved in the transport of water molecules out of

You May Also Find These Documents Helpful

  • Good Essays

    When you sustain an injury or if your blood vessels get damaged, it sends out strong signals that are picked up by platelets. These platelets are tiny blood cells rush and spread across the surface of the injury and form clots or plug to stop the bleeding or repair the damage in a process known as adhesion. On any site of injury, these platelets send out chemical signals to other platelets to pile onto the clot formed in a process known as aggregation. Having too many platelets can cause blood clots which may cause a heart attack, stroke or block a major artery. If you have too few or no platelets can be dangerous too because any slight injury can lead to serious blood loss. An example of platelet disorder is…

    • 1155 Words
    • 5 Pages
    Good Essays
  • Powerful Essays

    R. leg BKA amputation, diagnosed with lung disease. Died of unknown cause, possible MI. She was found in the morning not breathing.…

    • 1005 Words
    • 6 Pages
    Powerful Essays
  • Good Essays

    Aarskog syndrome (also known as Aarskog–Scott syndrome, faciodigitogenital syndrome, shawl scrotum syndrome and faciogenital dysplasia) is a rare autosomal X-linked inherited disorder that affects a person's height, muscles, skeleton, genitals, and appearance of the face. It mostly affects at birth and the symptoms usually become apparent by the age of 3years. Unfortunately, Aarskog syndrome is a lifelong condition without a cure. Some people with Aarskog syndrome are born with more serious abnormalities, such as heart defects or a cleft lip with or without an opening in the roof of the mouth (cleft palate). Most males with Aarskog syndrome have a shawl scrotum, in which the scrotum surrounds the penis. Less often, they have undescended testes (cryptorchidism) or a soft out-pouching around the belly-button (umbilical hernia) or in the lower abdomen (inguinal hernia).…

    • 481 Words
    • 2 Pages
    Good Essays
  • Powerful Essays

    Cystic fibrosis is an autosomal (not sex linked), hereditary disease caused by a mutation in the gene called the cystic fibrosis transmembrane conductance regulator gene, or the CFTR gene. This CFTR gene belongs to a group of genes called ABC (ATP-binding cassette). These are transport molecules for molecules such as phosphate, glucose, chloride, and peptides. Specifically for the CFTR gene, the molecules transported are chloride and sodium. The CFTR protein, which is created by the CFTR gene, has a molecular weight of 168,173 daltons and in length, is 1480 amino acids long. This variation in genes is located in chromosome 7 of humans. Because most people have two of the CFTR gene which creates the CFTR proteins, a person can be completely healthy with a mutation in the gene, as long as at least one of these genes are unchanged from the normal state. Without the cystic fibrosis variation of the CFTR gene, the CFTR proteins created by the gene act as a channel protein which can be found in the membranes of cells which line the passageways of organs such as the pancreas, lungs, and intestines. The CFTR protein can be modified in numerous ways to give the host cystic fibrosis; in fact, over 1000 transformations of the CFTR gene have been recognized. One of the most common of these mutations is a deletion of a single amino acid from the long chain of 1480 in the CFTR protein. This causes a breakdown of the channel made with the missing amino acid, which means that it never transports chloride ions, like it was made to do, because it never reaches the cell membrane. This mutation is delta F508, because the deletion occurs at position 508 on the CFTR protein. These sorts of mutations work to deteriorate and destroy the efficiency of the CFTR protein by changing or replacing parts of the protein’s amino acid order. This order chooses the way that the protein is folded, and if this order is…

    • 1736 Words
    • 7 Pages
    Powerful Essays
  • Powerful Essays

    Huntington’s is a genetic and autosomal dominant inherited disease; meaning that it is not affected 23rd chromosome also known as the sex chromosome. This indicates that if one has any parent with Huntington’s (female or male), they have a 50% chance of contracting the disease which can be seen in Figure 1. (Collins, n.d) . An irregular expansion of a reciprocated area of the DNA sequences of the gene is the result of the Huntingtin gene. That particular area encodes the amino acid glutamine. (healthtree, n.d) In a normal, healthy person; one has a string of 9 to 39 glutamines. But due to the irregular expansion of the Huntingtin gene, people with Huntington 's have 36 - 121 glutamines; well above the normal range. Due to the extreme size of this area, it makes the Huntingtin protein more unstable and turns the area into an abnormal shape. (healthtree, n.d)Though we know the genetics behind it, it is still a mystery why this Huntingtin protein causing neuron death in the striatum, the substantia nigra and the hypothalamus of the brain which can be seen in Figure 2 (look at yellow boxes). (healthtree, n.d)Due to the nature of the disease being…

    • 1541 Words
    • 7 Pages
    Powerful Essays
  • Good Essays

    Muscle Notes

    • 735 Words
    • 3 Pages

    Na channels open and moves na into sarcolemma and potassium leaves and goes into cleft.…

    • 735 Words
    • 3 Pages
    Good Essays
  • Better Essays

    nvq unit306 dementia

    • 1779 Words
    • 8 Pages

    Alzheimer’s is caused by broken signals within the brain leading to the death of brain cells, this can also lead to a shortage of some important chemicals, these chemicals control the transmitting of messages to the brain.…

    • 1779 Words
    • 8 Pages
    Better Essays
  • Satisfactory Essays

    Krabbe disease is a disorder inherited from parents, which destroys the myelin coat of nerve cells throughout the nervous system and the process is called demyelination. Demyelination inhibits the transmission of nerve impulses and that hinders the communication of the brain and the body and that results in disability (Mayo Foundation for Medical Education and Research, 2016). Dr. Knud. H.Krabbe diagnosed this disorder in 1916 (Arizona Board of Regents, 2015). Krabbe disease is a body recessive disorder that results from lack of enzyme galactorebrosidase or simply GALC, which is necessary to break down and metabolize toxic substances in nerve tissues (YouTube, 2016). A lack in GALC results in toxic built-up for example psychosine which is a destructive toxin that accumulates in the brain, as it begins to build-up in the nerve tissue it destroys the myelin sheath which covers the nerves (YouTube, 20160.…

    • 382 Words
    • 2 Pages
    Satisfactory Essays
  • Better Essays

    Noonan Syndrome

    • 1686 Words
    • 7 Pages

    Noonan syndrome is a genetic disorder that was once known as Turner-like syndrome. It is a mutation of several genes where they develop proteins that are continuously active; which ends up disrupting the control of the cells growth and division resulting in abnormal developments of the body. Noonan syndrome can affect a person's physical appearance in multiple ways, along with their mental state of mind. This syndrome equally affects males and females.…

    • 1686 Words
    • 7 Pages
    Better Essays
  • Good Essays

    There is no known cause of ALS. Almost 90 percent of the cases are sporadic, with only about 10 percent being caused by genetics. Two things that are known for certain about ALS are that it is most common in people over 40, and men are affected more often than women. In recent years, scientists have also identified genetic mutations linked to ALS. These mutations cause proteins to form or function abnormally, which can lead to irregular function of the neurons. Some of the gene and protein mutations that have been linked to ALS include C9ofr72, SOD1, TDP43, and ubiquilin-2 (UBQLN2). C9orf72 gene mutations are the most common cause…

    • 740 Words
    • 3 Pages
    Good Essays
  • Better Essays

    Noonan Syndrome

    • 1278 Words
    • 6 Pages

    Mostly everyone in the world has heard of some type of genetic disorder. But most people haven’t even heard or understand about Noonan Syndrome. Noonan syndrome is a genetic disorder characterized by distinctive facial features, developmental delay, learning difficulties, short stature, congenital heart disease, renal anomalies, and bleeding difficulties. Noonan syndrome affects a good percent of the world and may happen to anyone. Noonan syndrome has many key symptoms and very few certain treatment options. Noonan syndrome used to be referred to as the male version of Turner's syndrome (and is still sometimes described in this way); however, the genetic causes of Noonan syndrome and Turner syndrome are distinct. The principal features of Noonan disorder include congenital heart defect (typically pulmonary valve stenosis) also ASD, hypertrophic cardiomyopathy, short stature, learning problems, pectus excavatum, impaired blood clotting, and a characteristic configuration of facial features including a webbed neck and a flat nose bridge. The syndrome is named after Dr. Jacqueline Noonan. Mutations that cause Noonan syndrome alter genes encoding proteins with roles in the RAS-MAPK pathway, leading to pathway deregulation. Noonan syndrome is a relatively common genetic disorder with an estimated prevalence of 1 in 1000 to 1 in 2500 births.…

    • 1278 Words
    • 6 Pages
    Better Essays
  • Good Essays

    The protein AAT (alpha-1-antitrypsin) has 394 amino acids and is necessary to prevent the damage of the liver and lungs by an enzyme (human leukocyte elastase) that is part of the immune system. This protein is normally produced by the liver but due to a mutation this protein is unable to carry out its normal function meaning that the enzyme is able to damage the organs of the body. The mutation produces AAT with a Z allele which causes emphysema; the mutated gene cannot inhibit elastase due to a change in the amino acid sequence which changes the conformation of the protein meaning that it cannot fit in the active site on the elastase.…

    • 634 Words
    • 3 Pages
    Good Essays
  • Good Essays

    Alzheimer’s disease is a chronic progressive deterioration of the brain leading to dementia, incapacitation, and death. Dementia is a condition marked by memory loss plus a minimum of one other cognitive impairment. Alzheimer’s disease has been referred to as both the plaque of the ages and the plague of the aged. Alzheimer’s disease was so poorly understood that people who suffered this dementia were label as tormented, affected, pixilated, weird, afflicted, senile, mad, crazy, and spellbound. People with Alzheimer disease were feared, avoided, ignored, and ridiculed. Years and years went by peoples suffered terrible inhuman treatment when their families hid them away from other family members, the public, restrained them at home, locked them up in rooms, and committed them to insane asylums. There are many symptoms follow a set course of decline. There are a wide spectrum of demented actions every person will exhibit every symptom is a downhill regression follow a general pattern of mental regression and physical decline. People with the Alzheimer’s disease the earlier symptoms are recognized the greater chances are to slow and prevent the progression of dementia. Symptoms of Alzheimer’s disease are short-term memory loss, confusion, disorientation, wandering, mood swing, sundowner’s syndrome, eating habits and weight loss(changes) personal care, depression, agitation, aggression, paranoia, delusions, hallucinations, incontinence, speech loss, or total incapacitation and death. Short-term memory loss is the first perceived and one of the most common critical symptom. When a peoples begin to have short-term memory loss they are aware of the errors and hides them form family members and friends. Confusion is when the people are not able to do simple tasks and procedures become increasingly difficult for the…

    • 947 Words
    • 4 Pages
    Good Essays
  • Good Essays

    The ability for a mental health professional or physician to diagnose a child with ASD is tied to the age of the child as well as the severity of symptoms. Children can be diagnosed as early as 12 months of age, but these infants typically have more severe and noticeable differences such as language regression, unusual mannerisms, severe developmental delays, or having relatives with ASD (Valicenti-McDermott, Hottinger, Seijo, & Shulman, 2012). Typically, ages 4-5 are when the majority of children are diagnosed with ASD, as it coincides with the commencement of preschool or kindergarten when these children are expected to socialize with their peers but rather begin displaying certain behavioral differences.…

    • 458 Words
    • 2 Pages
    Good Essays
  • Good Essays

    Als Research Paper

    • 644 Words
    • 3 Pages

    ALS is a disease that prevents muscles to work by attacking the nerve cells. Patients that have ALS live for about 2 to 5 years after they get diagnosed; 8% of ALS patients survived for more than 10 years. This disease can strike anyone, but is not contagious. 10% of the patients across U.S. that have ALS were inherited. The gene chromosomes’ are 21 neurons that send a message from the brain to the nerves and muscles. The prevention or cause of this disease as not been discovered yet. Many symptoms of the disease include; twitching, muscle weakness, difficulty of chewing, slurred speech, and feeling clumsy. About 5 thousand people in U.S. were reported of this disease every year. In 1993 scientists of the National Institute Neurological Disorders and Stroke theorized that mutations in the gene were created by SOD1 enzyme. There is no cure for this disease, but scientists discovered that riluzole (drug) can slow down the process of ALS. They also discovered that creatine (muscle supplement) can help patients that have this disease; it helps to build muscle and enables the muscle to contract. Recent studies in California recommended patients to eat foods in high antioxidants because it gave them energy (Antioxidants include vitamins C and E).…

    • 644 Words
    • 3 Pages
    Good Essays