The Consequences Of Mutations

Tay Sachs is an incurable genetic disease that affects the central nervous system. It is a rare disorder that occurs chiefly in infants and children, especially those of the Jewish heritage. It is characterized by a red spot in the retina, paralysis, gradual blindness, and loss of muscle movement.

Signs and symptoms of the disease do not begin to surface until the child is around six months of age and it begins with gradual dysfunction of the motor skills. As the nervous system further degrades the symptoms become worse and the child loses sight, hearing, and mental functionality. Unfortunately there is no treatment for Tay-Sach’s except comfort measures and the life expectancy for a child with infantile Tay-Sach’s disease is typically four to five years (Ainsworth, 2011). The physician would need to emphasize that maternal age or lifestyle does not have any part in the cause of this diagnosis. The physician would then need to explain the options available at this time which are carrying the child to term or terminating the pregnancy via therapeutic abortion (Tay-sachs.org). Depending on the parent’s decision, should they choose to carry the child, they can also choose to care for the infant or place it for adoption. After the physician has spoken with the family, the RN would need to be there for the family, not only to listen, but again to answer any questions they may have.

There are no treatments or cures for Tay-Sachs disease; however, through palliative care,  treatment is used to keep the child comfortable. Palliative care often includes prescription medication to relieve symptoms, the use of feeding tubes, physical therapy, and respiratory care to avoid issues with the lungs and airways.

Tay-Sachs disease is a rare genetic disorder that destroys the nerves of the brain and spinal cord (the neurons). Tay-Sachs is usually discovered during infancy, the child appears to be on track and developing normal until the first signs of symptoms become apparent. The children typically do not live past the age of 5 due to many symptoms of the disorder/disease. However there have been individuals with Adult Tay-Sachs Disease (ATSD) and Late Onset Tay-Sachs disease (LOTS) in which they develop mild symptoms later on and worsen throughout the years. The symptoms include: loss of motor skills or muscle movement, vision and hearing loss, intellectual disabilities and dementia, and even can cause paralysis. The most common way to notice a child

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

Tay Sachs Disease is an inherited disease that results in slow destruction of the central nervous system and sensory systems, which is caused by a mutation resulting in a deficiency of a lysosomal enzyme. The missing enzyme, hexosaminidase A, functions in breaking down the fatty material ganglioside GM2, a chemical found in nerve tissue. Without this enzyme, lipids accumulate in the brain cells and destroy them, resulting in damaged nerve cells, neurological problems, and eventually leading to death several years after birth. The disease was first discovered by Waren Tay, a British ophthalmologist in 1881. Tay-Sachs disease is very rare in the general population and is relatively common among certain ethnic groups such as Eastern Europeans

Tay-Sachs disease is a rare inherited disorder that gradually destroys nerve cells in the brain and spinal cord.

However, there are thing that can help the child throughout the disease to help with the symptoms. Many kids that have Tay-Sachs are at risk for respiratory problems and can easily develop lung infections. This can be an issue when excess mucus collects in the lungs and creates breathing problems. It is also easy for the patients to have feeding problems and often gastronomy tubes are used. A gastronomy tube is a tube inserted into one’s nose that connects to the stomach. If the swallowing issues are really impacting the patient, one might opt for an esophageal tube, which is inserted surgically. Chest physiotherapy (CPT) can help remove the accumulated mucus. Due to the loss of mobility and motor skills, many patients benefit from physical therapy. This

Imagine giving birth to a beautiful seemingly healthy baby, the doctor wiping him or her off and handing it to you. Two days later, the hospital discharges you, and you begin to spend the next 3 months adjusting your new baby to your home. Towards the 4 month mark you realize some serious symptoms that are hard to ignore such as the inability to grow beyond his or her small figure., inability to hold something like a spoon or even your finger,and lastly lack of eye contact. Scary as this scenario may seem, at least 16 babies are diagnosed with Tay-Sachs disease in United States every year. Unfortunately, the diagnosed cases are only found in toddlers because, children with this disease only survive to the age of 5 years of age.

There are various support programs that help the families affected by this disease. The National Tay-Sachs & Allied Diseases (NTSAD) can help patients understand diagnosis, management options, updates on research efforts, and connect with other families. They provide information for in-home and outside services for patients. Also, there are online and outside support groups that help families relate. This provides comfort and ease on dealing with the disorder. Additionally, the National Institute of Neurological Disorders and Stroke (NINDS) support the additional research through grants

One of the reasons that Tay-Sachs is a very scary diseases is because there is no documented cure. The prognosis of Tay-Sachs has a 2-4 year life expectancy. Usually from reoccurring infections that become

Tay-Sachs is a disease caused by a mutation to the gene which codes for Hex A. Without Hex A, a cell cannot degrade GM2 ganglioside into GM3 ganglioside. This results in a build up of ganglioside’s in lysosomes of neurons. The result is varying degrees of mental deterioration. New DNA-based screening is currently being developed to replace the enzyme-based screening techniques that have been used since 1969. This will not only speed up the diagnosis, but also allow for earlier detection of Tay-Sachs by using the parents genotypes.

Tay-Sachs disease is an autosomal recessive disease of lysosome storage characterized by progressive neurologic degeneration. Children affected by Classic Infatile Tay-Sachs disease manifest the first symptoms at around 6 months and die before reaching 5 years of age. The signs and symptoms are severe including deafness, blindness, dementia, and recurrent convulsions during the terminal stage when affected children are confined. When symptoms appear in adolescence or early adulthood, this is called the Late-onset TaySachs disease (chronic form), a rare variant phenotype. A juvenile form is also distinguished, with an intermediate presentation. This appears between ages two to five, but can occur anytime in childhood. This disease was named

Did you know that there are hundreds of cool genetic mutations that you may not know about? Genetic mutations are permanent alterations of the nucleotide sequence of the genome (an organism 's complete set of DNA) of an organism, virus, or extrachromosomal DNA or other genetic elements. Genetic mutations can be good, there are all sorts of genetic mutations that can be good, it is as simple as the color of your eye or as complex as having a sprinting “superpower”. This also includes having the ability to see more colors than the average human eye, or being able to taste more than what is considered normal. There are people that may argue that all genetic mutations are harmful. Dr.David stated that “To summarize, recent research has

The Catalogue of Somatic Mutations in Cancer (COSMIC) is a comprehensive analysis of known mutational signatures across 40 distinct cancers in humans created by the mass collection of published peer-reviewed scientific journal articles (“Signatures of Mutational Process in Human Cancer”, 2016). Compared to nonsmokers, smokers had higher rates of mutational signatures 2, 4, 5, 13 and 16. Signature 4 is associated with lung, head, neck, and liver cancer and is characterized by C to A mutation substitutions. This signature was found in cancer tissue that had direct CS exposure, except for the liver (which is not directly exposed), however the signature was still elevated in comparison to nonsmokers (Alexandrov, et al., 2016). Signatures 2 and 13 are often associated with cervical and bladder cancers and are usually seen together. These signatures cause C to T and C to G mutations, respectively. Both signatures are also associated with the activation of APOBEC deaminases, likely due in response to inflammation in the presence of tobacco smoke (Alexandrov, et al., 2016). Signature 5 is present in all cancers, even those unrelated to tobacco, and is typically associated with aging and T to C mutations. It is unclear what directly causes the appearance of this signature, however levels were elevated in comparison to nonsmokers (Ehrenberg, 2016). Signature 16 is seen in liver cancer tissues and is characterized by T to C substitutions. Again, there were elevated levels of