Acatalasia
Several rare electrophoretic variants of red cell catalase were identified by Baur (1963). Nance et al. (1968) also described electrophoretic variants. Data on gene frequencies of allelic variants were tabulated by Roychoudhury and Nei (1988).
Wieacker et al. (1980) assigned a gene for catalase to 11p by study of man-mouse cell hybrid clones. In the hybrid cells, detection of human catalase was precluded by the complexity of the electrophoretic patterns resulting from interference by a catalase-modifying enzyme activity. Therefore, a specific antihuman antibody was used in conjunction with electrophoresis. In mouse, catalase is not syntenic to the beta-globin cluster or to LDH-A. Junien et al. (1980) investigated catalase gene dosage effects in a case of 11p13 deletion, a case of trisomy of all of 11p except 11p13, and a case of trisomy 11p13. The results were consistent with assignment of the catalase locus to 11p13 and its linkage with the WAGR complex (194070). Assay of catalase activity should be useful in identifying those cases of presumed new mutation aniridia that have a risk of Wilms tumor or gonadoblastoma, even in the absence of visible chromosomal deletion. In karyotypically normal patients with aniridia, Wilms tumor, or the combination of the two, Ferrell and Riccardi (1981) found normal catalase levels. Niikawa et al. (1982) confirmed the close linkage of catalase to the gene of the WAGR complex by demonstrating low levels of catalase activity in the erythrocytes of 2 unrelated patients with the WAGR syndrome and small deletions in 11p. From the study of dosage in 2 unrelated patients with an interstitial deletion involving 11p13, Narahara et al. (1984) concluded that both the catalase locus and the WAGR locus are situated in the chromosome segment 11p1306-p1305, with catalase distal to WAGR. Boyd et al. (1986) described a catalase RFLP with 2 different enzymes and used these polymorphisms to exclude deletion of the catalase gene in patients with sporadic aniridia, including one who was known to have a deletion and another suspected of having a deletion. Mannens et al. (1987) found deletion of the catalase locus in 6 of 9 patients with aniridia (AN2; 106210). One of these catalase-deficient aniridia patients had a normal karyotype. No catalase deletion could be demonstrated in 7 Wilms tumors. By classic linkage studies using RFLPs of the several genes as markers, Kittur et al. (1985) derived the following sequence of loci: cen-CAT--16 cM-CALC--8 cM-PTH-pter, with the interval between CAT and PTH estimated at 26 cM.
ACHONDROPLASIA is known as being undersized, or less than 50in. in height. Having short limbs, a normal sized trunk, large head with a depressed nasal bridge and small face. This is a result of a disease in the thyroid gland. It can also be caused by Down syndrome or absorption, a cartilaginous tissue during the fetal stage. Hypochondroplasia, a mild form of dwarfism. Spinal tuberculosis and the deficiency of the pituitary gland secretions. Treatment with thyroxin or thyroid extract early in childhood results in normal growth and development. Somatrophin, also known as the human growth hormone is secreted by the anterior pituitary. Respiratory problems start to occur in infants. Symptoms of problems include snoring and sleeping with neck in a hyperextended condition. The limbs have rhizometic shortening. The legs are straight in infantry but when a child. He begins walking they develop a knock-knee position. When the child continues to walk legs begin to have a bowed-leg look. Occasionally, these curvatures are fixed. As the child continues to walk the kyphosis disappears and the back assumes a lordotic posture. If a delay in child’s walking occurs, the spine should be monitored closely for signs of gibbous formation. In infancy, hypercephalus can occur. Infants head circumference should be monitored close . Monthly checks of head circumference must be monitored. Radiologic studies are indicated if head circumference raises to disproportionately, or if symptoms of hydrocephalus. Child’s pediatrician should have a copy of head circumference curves for children with achondroplasia. Radiologic procedures for dwarfism include head ultrasound, C-T scan, or MRI of the head. If intervention is necessary, a ventriculoperitoneal shunt is placed relieving the pressure. Infants should also be monitored for foramen magnum compression. It is the opening at the base of the skull in which the brain stem and cervical spinal cord exit. When you have achondroplasia the foramen magnum is compressing the brain stem and spinal cord. Symptoms of narrowing include apnea the cessation of breathing and cervical myleopathy. C-T scans and MRI scans are done to examine the size of the infectious foramen magnum. A neurosurgical procedure called a foramen magnum decompression is executed to alarge foramen and alleviate further symptoms. Adolescents are at risk of getting lumbosacral spinal stenosis. The lumber spinal cord or nerve roots become compressed producing nerosurgical symptoms. Initial symptoms including weakness, tingling, and pain of the legs. Pain usually alleviated by assuming a squatting position.
Out of the various amounts of genetic blood disorders in the world, Thalassemia is one of the more common known diseases. Thousands of infants with beta thalassemia are born each year. There are two different types of thalassemia related problems, alpha thalassemia, and beta thalassemia. The differences between the two types of thalassemia lie in the hemoglobin chain that is affected. For this paper the focus will be on beta thalassemia. Beta thalassemia is divided into three subcategories. The forms are thalassemia minor, thalassemia intermedia, and thalassemia major. The topics relating to beta thalassemia that are going to be explored are inheritance patterns, genes, mutations and proteins involved with Beta Thalassemia.
According to Professor Philip James, the world´s most respected specialist in obesity, the use of sugar was restricted to teas and cakes prior to WWII. Today, on the other hand, sugary foods are found everywhere. Doctors have been slow to react to the relationship between obesity and sugar; it was only in the year 2003 that the link between these two was established. Before this discovery, the only known link was the consumption of sugar and unhealthy teeth. An interesting fact is that the brain is incapable of understanding or detecting the presence of sugar and that is why one continues eating sugar although the body has gained enough. A further discovery is that the brain is not accustomed to having many snacks in between meals, at least not sugary snacks. Professor James states that every additional can or glass of soft drinks increases the risk of suffering from obesity by 60%, which is something the manufacturers do not want people to know. He states that “When you’re into food, you’re into big
Childhood obesity is a growing epidemic in the United States, with refined sugar contributing to its early onset. In BBC’s documentary “The Truth About Sugar”, Fiona Phillips explores how sugar affects our weight. Essentially, the sugar that is added into our foods and used in our homes has been stripped of it’s fiber and roughage, leaving only pure calories and energy. Children consume this immense amount of energy when they eat sugar. When energy isn’t burned off, it can lead to weight gain very quickly. Simply put, your liver turns this excess sugar into fatty acids which your body stores as excess fat (BBC “Truth About Sugar). The World Health Organization recommends that only 5 percent of daily caloric intake come from sugar. However, the typical American diet is comprised of 13 percent calories from sugar. In saying this, it is not shocking that 1 in 3 children are either overweight or obese. That adds up to approximately 12.7 million, or 17 percent, of children (American Heart
A deletion of genetic material in the part of the X chromosome called Xp22 causes microphthalmia with linear skin defects syndrome. This region has a gene called HCCS, which carries instructions for producing an enzyme called holocytochrome c-type synthase. This enzyme helps produce a molecule called cytochrome c. Cytochrome c is involved in oxidative phosphorylation. That is when mitochondria create adenosine triphosphate (ATP), the cell's energy source. It also contributes to apoptosis. A deletion of genetic material that includes the HCCS gene prevents the production of the holocytochrome c-type synthase enzyme. Since females have two X chromosomes, some cells produce a normal amount of the enzyme and other cells produce none. The resulting
Catalase is an enzyme found in cellular organelles called peroxisomes. It catalyzes the breakdown of hydrogen peroxide(which is toxic to the cell)to oxygen and water
Alice Friedmann was born on October 20, 1919. The Holocaust hadn’t affected her town and life until around 1938, when she was 19. The Germans were closing the borders of Czechoslovakia. Transports vehicles were emerging out of nowhere, taking friends and family members from everyone. This sent the city into a panic. One day, in 1941, Alice Friedmann, who was twenty-two years old at the time, had just gotten notice that her younger brother, who was now also a young man, was leaving on the next transport vehicle to somewhere unknown. Not a single person knew where the trucks were headed on the transports. Alice, her brother, and the rest of their family cherished their time together, knowing that her brother would soon leave. Finally, it was time for her brother to leave. Alice was walking with her brother to say her goodbyes at a transport assembly station in Prague. Her heart
The biochemical properties of helicases are all very similar however, the presence of specific motifs (short chains of DNA, primarily used for structure) alters which family of helicases they fall into, how that specific helicase will work and subsequently; mutations in these specific motifs will cause specific differences in protein synthesis. There are 4 'Superfamilies' created through differentiation of 7 conserved motifs, roughly made from 300-500 amino acids(Hall & Matson, 2002). All helicases covered in this paper belong the largest family(Unmate et al, 2011) Super Family 2 (SF2) which are recognized by 9 conserved motifs.
The research hypothesis for the optimal environment of catalase is that catalase would perform optimally at a high substrate concentration that was below saturation, with inhibitors present, and at a temperature of 37 degrees Celsius. The hypothesis was based on the idea that catalase must be functioning inside the human body at all times in order to prevent cell damage, and therefore catalase’s optimal environment should be similar in conditions to that of the human
Teen pregnancy rates are increasing every year. This is an elevating issue that needs to be solved. No real solution to this matter has been found. Instead our government forks out money we don’t have to support these teenagers that are in need rather than assisting others in our society that are suffering. Michael D. Tanner, co-editor to The Cato Ins...
How the Concentration of the Substrate Affects the Reaction in the Catalase Inside Potato Cells
Apraxia of speech is a well-known disease among children around the entire world. There are many stories out there about children having apraxia of speech as well as overcoming it. A story about a girl named Big Sister inspired me and made me want to know more about apraxia. According to “This Simple Home” a young girl with the name of Big Sister showed early signs of apraxia but nobody wanted to believe it. She was always such a happy baby but she didn’t babble or have any sounds. She had no throaty signs, the only sound was mmm-mmm while she was eating, which didn’t start until the age of five. She did laugh and giggle and cry though. They began teaching her sign language so that she could communicate around the age of two and people around them thought that they were crazy for doing so. Around the age of fifteen months their pediatrician encouraged them to go get a hearing evaluation as well as a speech evaluation. From there they started therapy. She had a Speech and Language Pathologist (SLP) and by her second birthday she was having a couple word approximations. Then from there she began to improve. (Annette, 2012)
The assessment included ophthalmologic, audiologic, and general physical examinations, as well as serum chemistries and routine urinalysis. Peripheral blood samples was extracted from the patients, their unaffected siblings, and their parents. The genomic DNA from all samples was amplified with ALMS1 exon 16-specific primers, and products were purified and sequenced using the 3730×l DNA Analyzer. In the results, the researchers compared two patients from a highly consanguineous kindred from the small village, in which they both had the syndrome caused by homozygous inheritance for an identical insertion of 333 bp in exon 16 of ALMS1 gene. By studying the transposable sequence, it was discovered that it belonged to the class of Alu Ya5 elements. When compared to the wild-type ALMS1 allele, the ALMS1Alu allele had a target site duplication which is characteristic of the Alu insertion mechanism. The long uninterrupted stretch of adenosine suggests that the sequence was inserted by a retrotransposable event. Heterozygous carriers of the mutated insertion was identified by haplotype analysis with chromosome 2p13-specific microsatellite markers and confirmed by PCR genotyping for the presence of the Alu allele. The wild type allele PCR product size is 313 bps, whereas the Alu allele PCR product size is 646
Sugar is a toxic poison and it has become the main problem in modern diets that is leading to Metabolic Diseases.