• Inflammation of various tissues of the body (systemic lupus erythematosus). • Fabry disease. • Whipple disease. SYMPTOMS Symptoms of…
Abstract Li-Fraumeni syndrome is an inherited disorder and leads to the presentation of various types of cancer in a family. This experiment was conducted to determine first, based on Valerie’s family pedigree, if Li-Fraumeni syndrome is present in her family and who has been affected by it. Once this was established, gel electrophoresis was used to compare samples of Valerie’s blood and normal breast tissue to her tumor tissue and to a wild type DNA fragment to see whether or not her cancer has metastasized; it did not appear that this was the case. Lastly, her children’s p53 gene was sequenced and compared to the wild type p53 sequence to determine whether any of them carried the mutation. Two of her children do have the mutation at two points…
This genetic mutation is an autosomal dominant disorder where low-density lipoprotein (LDL) aka “The Bad Cholesterol” is unable to be cleared from the bloodstream and will then accumulate in tissues and arteries. The two forms of the disorder depend on the genes they inherit from their parents. Heterozygous FH is where a patient acquired this disorder from one affected parent. The patient will have an elevated cholesterol at the onset of birth and over time develop fatty deposits under their skin called xanthalasmas. Typically, affected individuals will not even know they have FH until the sudden onset of some form of cardiovascular event such as a heart attack.…
There is a gene called the HEXA gene that “provides instructions for making part of an enzyme called beta-hexosaminidase A” which is an integral part in the proper function of the brain and spinal cord (“Tay-Sachs Disease” 1). This enzyme lies within the lysosome, which “are structures in cells that break down toxic substances and act as recycling centers” and within the lysosome, the HEXA gene helps break down a “fatty substance called GM2 ganglioside” (“Tay-Sachs Disease” 1). Tay-Sachs then occurs when there is a mutation within the HEXA gene, which disturbs the process of the gene; when this happens the GM2 ganglioside rises to toxic levels especially in the neurons in the spinal cord and brain (“Tay-Sachs Disease” 2). This then causes all of the neurological and motor function issues that arise within someone who is afflicted by…
Without the protein, gangliosides build up in cells. Mutations in the HEXA gene are responsible for the development of Tay - Sachs disease. ‘The HEXA gene provides instructions for making part of an enzyme called beta - hexosaminidase A’ (Genetics Home Reference authors, 2012). The enzyme is situated within the lysosomes, structures in cells responsible for breaking down toxic substances. Inside the lysosomes, beta - hexosaminidase A assists in breaking down the fatty substance, GM2 ganglioside.…
Cri-du-chat syndrome or cat cry syndrome is a genetic condition. It is a deletion of genetic material in a small arm. People with this condition sometimes has a high-pitched cry that sounds like a cat cry. Most of the time it is not, inherited. “Deletion of the genetic material on the small arm (the p arm) of chromosome 5”.…
Tay-Sachs disease is a genetic disorder that affects nerve cells in the brain and spinal cord. This condition is caused by mutations in a gene called hexosaminidase subunit alpha(HEXA). The HEXA is a gene that provides instructions for making beta-hexosaminidase that makes a functional enzyme with one alpha subunit. Beta-hexosaminidase is an enzyme that is located in lysosomes, is an important enzyme that breaks down a GM2 ganglioside. Therefore, the lack of the beta-hexosaminidase enzyme results in the accumulation of the GM2 ganglioside in the brain and spinal cord that damages nerve cells.…
A genetic mutation on chromosome seventeen causes a shortage of an enzyme aspartoacylase (ASPA) gene; this is an inherited autosomal recessive trait. That is, a child must inherit one copy of the mutated gene from each parent to develop the disease. Aspartoacylase serves as a metabolic component that breakdowns the brain element known as N-acetyl-aspartate (NAA). When NAA is not broken down properly, it causes a decline of the white substance (myelin) in the brain.…
Marfan Syndrome Near the end of the 19th century a french doctor Antoine Marfan was the first doctor to notice the effects of a common disorder (Atinder). Marfan syndrome is a genetically inherited disorder that affects the connective tissues that exist through the body. Specifically, Marfan syndrome alters the FBN1 gene and this affects the production of fibrillin (NHGRI). Fibrillin is a protein that is produced by the body to give strength to connective tissue.…
The probability that their child will be a carrier of the gene and not the disease is fifty percent while there is a twenty-five percent chance that the child will not have the gene or the disease. Children born with Tay Sachs are born without an enzyme called hexosaminidase A (Hex A), which assists in breaking down GM2 ganglioside lipid. Hexosaminidase A deficiency is a direct result of a defect found in Chromosome 15 which controls the production of the hexosaminidase A enzyme. A healthy person is born with the hexosaminidase A enzyme, which prevents the build up GM2 ganglioside lipid. Without hexosaminidase A, the build up of the GM2 ganglioslide lipid in the brain eventually causes neurological…
Cystic fibrosis can also cause intestinal malabsorption, which can lead to severe malnutrition to the individual and growth failure. Cystic fibrosis can lead to death if untreated from and early childhood. (Campbell., 2012) This genetic disease is caused by mutation in a pair of genes which are located on chromosome 7 called CFTR, which stands for “Cystic fibrosis transmembrane conductance regulator”. Unlike the sex cells, every cell in the human body has 46 chromosomes, because 23 pairs of chromosomes are inherited from the mother as well as the…
Fragile X syndrome is a genetic condition that causes intellectual disability, behavioral and learning challenges and various physical characteristics. This condition occurs when there is a mutation of the X chromosome called FMR1. The FMR1 gene provides instruction for making protein that helps regulate production of other proteins and has a role in the development of synapses which are critical for relaying nerve impulses. Fragile X syndrome occurs in both males and females, however females have more milder symptoms. The gene can be passed down from both mother and father.…
Fetal Alcohol Syndrome is a congenital syndrome. It is known to be caused by alcohol consumption by the mother during pregnancy. Intellectual and mental disabilities, stunt of growth, behavioral problems, learning disabilities and a lack of sense for cause and effect are just a few of the characteristics of Fetal Alcohol Syndrome. New research shows that the father's’ drinking habits prior to conception can also contribute to fetal abnormalities. Fetal Alcohol Syndrome is 100% preventable.…
Angelman syndrome is a rare genetic disorder that affects around 1 in around 12,000-20,000 live births and affects both males and females equally. Angelman syndrome is very often misdiagnosed as autism or cerebral palsy. Angelman syndrome is not an inherited disease, and is instead caused by a change in the E3 ubiquitin protein ligase gene (UBE3A) on the maternal chromosome 15. This change prevents the chromosome from functioning properly. It occurs as a random event during the formation of eggs and sperm, or in the early stages of embryonic development.…
Prenatal exposure to alcohol has a profound effect on development and health. Fetal Alcohol Syndrome (FAS) is an umbrella term referring to the various effects and conditions caused by prenatal exposure to alcohol. Lasting effects may include learning and growth deficits, central nervous system dysfunction, behavioral dysregulation, and sensory integration dysfunction. Early developmental trauma, such as prenatal alcohol exposure, has a persistent effect on a child’s development and can lead to delays in social, behavioral, and neuropsychological development. By recognizing early developmental trauma, parents and caregivers may provide the best support to their child.…