Niemann Pick Disease Research Paper

Hutchinson-Gilford Progeria syndrome, also known as HGPS, or Progeria, is a very rare genetic disease caused by a mutation in the cell. In 1886, Jonathan Hutchinson first reported case of a 3 ½ year old boy who had the appearance of an old man. In 1897 Hastings Gilford reported a second case with similar features. However, this mystery disease didn’t have a name until 1904, when it was named after the two men. People who have HGPS usually star showing symptoms by the age of 2, and only live to be a teen-mid-20s.

Without this enzyme working properly, there will be a toxic buildup of ganglioside in the brain causing serious and life-threatening complications. (“Student Resources in Context Tay-Sachs “World of Health.Gale,2007.Student Resources in context.Web.22 May 2014”).Which is why the symptoms are so serious and normally result in the death of the person that has this disease. The person doesn't necessarily die from the actual disease sometimes, it can actually be from complications caused by this disease. 1 in 3600 Jewish infants are born with Tay Sachs disease. (“Student Resources in Context Tay-Sachs “World of Health.Gale,2007.Student Resources in context.Web.22 May 2014”). This disease, although it may not seem like it, is a autosomally recessive disease that has to be inherited through parents that either have the disease or are both carriers. Parents can be carriers and not even know it because this disease is recessive so both recessive alleles have to be present in order for the disease to show itself. Interestingly, 1 in 27 eastern European Jews are carriers for this disease. (“Student Resources in Context Tay-Sachs “World of Health.Gale,2007.Student Resources in context.Web.22 May 2014”). Two of the three forms listed above are fatal and result in death not very late after diagnosis. Death normally occurs at a young age as the

The purpose of this paper is to discuss the effects of the disorder and how genetics and biochemistry work together to create this

Some of the general symptoms of the disease can be characterized by hind limb spasticity, weight loss, tremors, abnormal posture with lordosis, and possibility of visual impairment. Muscle weakness, clasping of the limbs, and myoclonic twitches of the head that can be onset late in the disease. Research of the GM2 ganglioside has revealed that storage of the fatty substance varies a large

The term ganglioside lipid was thought of because of the high abundance of the brain lipid in normal ganglion cell, a type of brain cell. Other names Tay Sachs disease is known by are B variant GM2 gangliosidosis, GM2 gangliosidosis, type 1, HexA deficiency, Hexosaminidase alpha-subunit deficiency, (variant B), Sphingolipidosis (Genetics Home Reference, 2017). Tay Sachs disease is diagnosed by prenatal tests, such as chorionic villus sampling (CVS) and amniocentesis, can diagnose Tay Sachs disease. Genetic testing is generally done when one or both members of a couple are carriers of the disease. CVS is performed between 10 and 12 weeks of pregnancy and involves taking a sample of cells from the placenta via the vagina or abdomen. Amniocentesis is done between 15 and 20 weeks of pregnancy and involves extracting a sample of the fluid surrounding the fetus using a needle through the mother’s abdomen (Herndon, 2016). If a child is displaying symptoms of Tay Sachs disease, doctors and get a family history, do blood work, tissue sample or do an eye exam to see if the child has a red spot near the

Prognosis for people with the Juvenile/Chronic/Adullt-onset type of Hexosaminidase A Deficiency is dependent upon the onset and severity of symptoms in each case. Most will have their mental status decline between 2 and 10, and will become vegetative in an age of 10-15. This is followed by death several years later. Affected people may die in early childhood in more severe form of the condition.

This disease causes the deterioration of the nerve cells and physical state for the first 6 months. Some symptoms during the infantile stage are blindness, deafness, and the inability to swallow. Sometimes 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 the accumulation of gangliosides in the brains nerve cells, thus causing Tay-Sachs disease. Tay-Sachs develops when very harmful gangliosides collect in the brains verve cells which ultimately result in death of the cells. Tay Sachs can be identified as a cherry-red spot located on the nerve

Hirsch sprung disease is a disease that shows several Signs and symptoms. Approximately more than 75% of children with Hirsch sprung disease show symptoms in the beginning of six weeks of their lives. Newborns frequently begin showing symptoms with in the earliest 24 to 48 hours of life. the most common signs and symptoms infants may experience during Hirsch sprung disease are as the following: Not having a bowel movement in the first 48 hours of life, gradual swelling of the belly, gradual onset of vomiting, fever, sepsis (overwhelming infection), growth failure, refusal to feed, easily palpable fecal mass, foul smelling stool, constipation or a condition in which there is difficulty in emptying the bowels that usually associated with hardened feces that worsens over time, and Small watery stool( Cincinnati children's hospital,2017)

There are three forms of GM2-gangliosidoses associated with either of the three gene products necessary for GM2 hydrolysis. Tay-Sachs disease is caused by mutations in the HEXA gene which affect the a subunit unique to Hex A. Patients with Tay--Sachs disease retain the ability to produce

The disease originally attacks infants and may develop later in adults/older children. The discovery of the disease was made in the early 1900’s by a Danish neurologist Knud Haraldsen Krabbe. He had originated the illness when

The Prevalence of this type is ~1% to 2% of all childhood epilepsies. Age at onset is 7 months to 6 years with peak at 2 to 4 years. Both sexes are affected, with a male predominance (ratio 2:1). Neurological and mental state is normal prior to the onset of seizures. The idiopathic form is genetically determined (high incidence of seizures and/or genetic EEG patterns in relatives) and probably linked with GEFS+.

Other symptoms include loss of function of nerves, the brain, and other organs. The reason Niemann-pick is such a terrible disease is because there is currently no treatment that has been proven to cure the children affected by this disorder. However, funding will need to be given because there is a new hope for a drug called Zavesca for those battling this crippling disease. An international study in which the drug was taken for two years has been showing improvement for neurological symptoms which is why we should invest more money into the research needed to help the 1 in 250,000 people that are affected. There are several organizations committed to helping the families such as the National Niemann-Pick Disease Foundation, Inc., National Organization for Rare Diseases, or NPUK.org. Something I would like to understand better about Niemann-Pick disease is, why does it only affect certain minority groups from certain parts of the world? For example, type C mainly affects occurs more frequently in people of French-Acadian descent in Nova

Batten disease is also a fatal hereditary disorder of the central nervous system occurring in childhood. The symptoms include formation of lipopigments in body tissues and early symptoms include personality and behavior changes, clumsiness or stumbling. As the disease advances children may experience mental impairment, loss of sight and motor skills, become blind and bedridden. Lafora body disease is a rare genetic disorder responsible for causing progressive dementia and movement problems. The symptoms arise in the early childhood or late teens and are characterized by the presence of Lafora bodies in brain, skin, muscles and liver and death of child within 2-10 years.

The prognosis for all three forms of Griscelli syndrome is variable as per the type and whether or not treatment was given. As previously noted, HSCT has proven to be successful in the treatment of GS2. Patients receiving HSCT treatment have a considerably high chance (80 percent, according to the study above) of being cured of the disease and living a normal life following treatment. On the other hand, if a patient is diagnosed with GS2 and does not receive treatment, their prognosis is extremely poor. From the time of onset, GS2 is usually fatal within 1-4 years without treatment, with the mean age at the time of death being five years (Scheinfeld & Johnson, 2016). Patients diagnosed with GS1 have the most uncertain prognosis. The severity of the neurological issues associated with GS1 are not universal; some patients are completely wheelchair-bound, while other only have issues with speech and complex motor function. Surviving GS1 patients almost always require extremely close monitoring by a caregiver in order to ensure their safety. They may also receive various therapies for their neurological issues, however, this is not a general prognosis, as each case of GS1 is different (Çağdaş et al., 2012). Patients diagnosed with GS3 have the most positive prognosis. Since GS3 only manifests partial albinism, they do not have the risks associated with the neurological or immunological conditions involved with GS1 and GS2. Patients diagnosed with GS3 may receive

Niemann-Pick Disease is an autosomal recessive disease, passed down through carrier parents, where lipids gather in the cells of the spleen, liver, and brain creating an obstruction. There are four known forms of the disease, Type A, Type B, Type C, and Type D, in which Type A and B compose Type I and Type C and D make up Type II. Type A and B are a response to the lack of the enzyme acid sphingomyelinase(ASM) which metabolizes sphingomyelin. When there is an absence of sphingomyelinase the excess build up of sphingomyelin kills multiple cells stopping organ function. Symptoms of Type A include: abdominal swelling, redness in the eye, feeding difficulties, and loss of motor skills. Type A is the more severe of situations, not offering