The Amelogenesis Imperfecta Health And Social Care Essay

The Amelobrokersis Imperfecta Health And mixer C be EssayYour sister has noticed that the teeth of her young son atomic number 18 discoloured and has taken him to the dentist. After a series of tests, the condition of X-linked amelo ingredientsis imperfecta is diagnosed. She asks you, a alveolar consonant student, to explain the reason for this condition. Particularly, she would like to understand why, in this condition, the beautify is malformed, how the in like mannerth enamel differs from typical and the reason her son, unless not her, or her preserve is bear on.Learning outcomes1. To explain and understand constituentral enamel governing body.2. To identify the distinguishable types of AI and their deferation.3. To describe the transmittable autograph and various types of genetic mutations that green goddess be found.4. To understand and describe the phrases autosomal prevailing inheritance, autosomal recessive allelomorph allele inheritance and X-linked rec essive inheritance.5. To identify the genes associated with AI.IntroductionAmelogenesis imperfecta is a hereditary infirmity that affects tooth development and results in the abnormal formation of tooth enamel. In the above scenario our nephew has been diagnosed with X-linked amelogenesis imperfecta. below I pull up stakes explore the proposed learning outcomes and take a close-hauled look at the inherited disease.Explain and understand normal enamel formation.The teeth be composed of ternion mineralised tissues enamel, dentin and cementum, which surround the internal unmineralised dental treacle. 1The dental pulp is the l sensation(prenominal) living part of the tooth and is make up of connective tissue, odontoblasts and nerves. It supplies the outer mineralised layers with a supply of organic compounds and the odontoblasts attend with the creation and re match old dentin. The nerves inside the pulp are also very sensitive and alert an individual of any blot or trauma that may occur. If the pulp is exposed to bacteria, infections are likely. 2 3http//www.dentalhealth.ie/ harsh/images/legacy/dhp/pic_stuctureoftooth.gifCementum nates be found below the gum tree line book binding the dentin and root of the tooth. It helps to anchor the tooth and protect the root. It is always formed through life by cementoblasts in the dental pulp as it pr superstar to destruction. 46 FIG.1 Basic tooth mental deductive reasoningDentine is made up of tiny tubules and is the near abundant of the terce mineralised tissues. It acts as support beneath the enamel covering and has a protective function to the dental pulp. Dental pulp, cementum and dentine are all derived from the mesencymal origin. 57 FIG.2 tooth enamel structure The head is orientated superficially and the tail towards the tooth roothttp//www.kck.usm.my/ppsg/histology/e_2_0.jpgLastly enamel which is derived from the ectoderm is made up of primarily crystalline calcium phosphate and is the outermo st component of the tooth and covers the dental crown. The calcium hydroxyapatite enamel crystals are arranged as keyhole ascertaind rods that crossbreed the full thickness of the enamel layer (see fig.2). The enamel crystals mystify a parallel orientation and any gaps mingled with the rods are filled with unless crystals. Enamel is the hardest most mineralised structure found in the human body. 4 8Enamel is formed by the operation of amelogenesis after dentine is formed in the process of dentinogenesis. There are four main maps to amelogenesis Presecretory, secretory, maturation and perspective maturation. 19 FIG.3 Basic tooth structureThe presecretory stage starts with proliferation of the oral epithelial tissue to form the dental lamina, tho proliferation with occur at the site of each future tooth and there leaveing be an outgrowth of cells this is called the bud stage. This bud of cells then enlarges and develops a orchestra pit in the cap stage and further growth and development willing lead to the development of four recognisable layers in the bell stage. lastly the internal enamel epithelium will cease to divide and the dental lamina will degenerate leaving being the early developing tooth. 1In the secretory stage a partially mineralised enamel hyaloplasm is deposited directly on the place of the previously formed dentin by attached secretory stage ameloblasts. 1 The organic partially mineralised matrix is produced as a result of the combined actions of the rough endoplasmic reticulum, Golgi apparatus and secretory granules. The ameloblasts will terminate onward when the first layer of enamel is deposited on the dentine allowing the Tomess process to develop at the secretory pole of each ameloblasts. The Tomess process is responsible for(p) for the formation of enamel rods as it lays down the crystals of the enamel matrix. The ameloblasts lie next to the stratum intermedium which contains alkaline phosphotase which is responsible for calcification of the tooth enamel. These ameloblasts continue to produce the enamel matrix until full thickness is reached. 4Maturation of the partially mineralised enamel matrix involves the remotion of organic material and the continuous influx of calcium and phosphate. 4 Maturation stage ameloblasts differentiate from secretory stage ameloblasts and they now contain high meter of mitochondria to carry out their function as a transport epithelium moving substances into and out of the maturing enamel. The maturing enamel matrix contains four main types of protein amelogenins, ameloblastins, enamelins and tuftelins. The amelogenins are important in maintaining the spaces between the enamel rods and the ameloblasts control the elongation of the enamel crystals, some(prenominal) of these proteins are distant from the mature enamel. Enamelins undergo cleavage as the enamel matures and will besides(prenominal) be found on the surface of the crystals.Tuftelins are present in mat ure enamel and responsible for hypomineralisation. 1 4In the final stage of post maturation the enamel organ will degenerate and the tooth will erupt and become exposed to the oral environment. 14 key the different types of AI and their presentation.Amelogenesis imperfecta is a group of hereditary disease that affects both the primary and secondary dentition. It results in the enamel becoming hypoplastic, hypomineralised, discoloured and sensitive. 10There are four main types of amelogenesis imperfecta (AI) that have been identified be guinea pig of their differences in enamel defects that present in patients.In Hypoplastic AI (type1) the enamel is of normal colour tho much thinner as the enamel has not formed to normal thickness, the enamel can also have pits and grooves due to the disturbance in differentiation of ameloblastins. In hypomaturation(type 2) AI the teeth are of normal shape but have a mottled, unfairness, opaque appearance and chip away easily from the underlying de ntine because of a change to the rod structure. Hypocalcified AI (type 3) has poor enamel mineralisation and a defect in its matrix structure making it very soft and susceptible to abrasion its appearance is dark and chips easily. 1 11 (see fig.4).http//www.ojrd.com/content/figures/1750-1172-2-17-1-l.jpgFinally hypoplasia (type 4) AI is a combination of hypoplastic and hypomaturation AI. It is characte prinkd by a reduction in enamel thickness and the enamel has a chicken brown mottled appearance. 1312 FIG.4 Phenotypic descriptions of amelogenesis imperfecta. hypoplastic (a, b, c, d), dysmineralised (e, f), hypocalcified (g, h) hypomineralised form (e and f) The hypomaturation forms (g, h)Describe the genetic code and various types of genetic mutations that can be found.15 FIG.5Genetic information is encoded in the base sequence of deoxyribonucleic acid molecules as a series of genes. The genetic code describes how base sequences are interpreted into amino group corrosive seque nces during protein synthesis via transcription and translation. 14http//sjesci.wikispaces.com/file/view/DNA-to-codon.gif/155543209/DNA-to-codon.gifThe DNA sequence of a gene is divided into a enured of three bases called a codon (see fig.5). Each codon gives rise to a particular amino superman or a hang-up signal. The genetic code is referred to as degenerate because each amino acid is encoded by more than one codon there are 64 thinkable combinations of codons from the 4 nucleotide bases (Adenine, guanine, cytosine and uracil or thymine) but only 20 different amino acids. (See fig.6)http//2.bp.blogspot.com/-i-CYqAFf61o/TZXYoBQmXrI/AAAAAAAAB5g/5PmMdfOP1PQ/s1600/genetic-code-1.jpgThis degeneracy minimises the possible effects of mutations as alterations to the base sequence are less likely to change the amino acid so changes to the protein structure and function are avoided, this is known as a silent mutation. Protein synthesis always starts with the initiation codon AUG which e ncodes the amino acid methionine but this is later removed. Protein synthesis is terminated by the any of the three soften codons UAG, UGA and UAA. 141617 FIG.6DNA mutations can however cause genetic disorders and cancers. A gene mutation occurs when there is a change in the DNA sequence that makes up a gene these can be sort as either point mutation which involves the alteration of a case-by-case base or gross mutations which often involve the alteration of longish DNA sequences.There are several types of point mutations. Missense mutations occur when a single base is altered or substituted and a different amino acid is produced. Nonsense mutations result in translation ending prematurely because a nucleotide base has been substituted for another resulting in a stop codon and frameshift mutations result after a single base is either deleted or inserted which causes the ribosome to read a new set of codons which will alter the discontinued amino acid chain produced.(see fig,7 ) All these changes to the DNA sequence will alter the amino acid chain and subsequently have a serious effect on the protein produced and effect how well it will represent or how it will carry out a specific task. earn mutations have the same implications and also experience insertion and deletion but this is of several bases at a time. 1418Figure 4 If the number of bases removed or inserted from a segment of DNA is not a manifold of three (a), a different sequence with a different set of reading frames is transcribed to mRNA (b).19 FIG.7 Frameshift mutationsIf the number of bases removed or inserted from a segment of DNA is not a multiple of three (a), a different sequence with a different set of reading frames is transcribed to mRNA (b).Identify the genes associated with AI.Faulty alleles of the genes AMELX, MMP20, KLK-4 and ENAM cause the disease amelogenesis imperfecta. These genes usually digest the genetic instructions for the production of proteins that are essential fo r the healthy formation of enamel. The mutations of these genes have caused a change in the nucleotide base sequence and as a result the protein structure is altered making them last ineffectively or not at all, in turn this has a variety of effects on the enamel formation. 1The AMELX gene is located on both of the sex chromosomes, X and Y and provides instructions for the protein amelogenin which is essential for normal tooth development as is separates and supports the hydroxyapatitecrystals as they mature. Mutations in AMELX have been found to cause X-linked amelogenesis imperfecta because of the change in structure to amelogenin. 20TheENAMgene provides instructions for the production of the protein enamelin and mutations of this gene can be found in both patients with autosomal dominant AI and autosomal recessive AI.21 (see below)MMP20is responsible for the protein enamelysin mutations in this gene are inherited via the autosomal recessive pathway and KLK-4 mutations are respon sible for hypomaturation AI. 2223 look and describe the phrases autosomal dominant inheritance, autosomal recessive inheritance and X-linked recessive inheritance.Humans have 22 pairs of autosomal homologous pairs of chromosomes and one pair of sex chromosomes X and Y. Females have two X chromosomes where as males have one X and one Y chromosome. 18There are three variants of single gene disorders that allow faulty alleles (version) to be passed between generations. These accept autosomal dominant, autosomal recessive and X-linked. 14Autosomal dominant genes24 FIG.8 Autosomal inheritanceIn autosomal dominant disorders only one faulty allele ineluctably to be passed from the parents to the offspring for them to be abnormal by the disease. The affected kid will also have one normal allele of the gene making them heterozygous. The affected childrens offspring will also have a 50% come up of inheriting the affected allele. (see fig.8)14In autosomal recessive disorders however the likeliness of being affected by the disease is only 25% and both parents must possess at least one of the mutated alleles. (See fig.9)This is because in recessive orders both inherited alleles must be mutants to coming into court an effect in the offspring. There still is a 50% chance of being a bearer (if you have one healthy and one effected allele). 14http//retinaaustraliansw.com.au/images/AutosomalRecessiveInheritance.gif26 FIG.926 FIG.10 X-linked inheritanceIllustration showing X-linked recessive inheritance pattern with carrier motherIn X-linked disorders the faulty allele is present on the X chromosome. As males only have one X chromosome they only need one copy of the allele to have the disease, they are hemizygous. Females however must have two copies of the faulty allele (homozygous) to be affected and so are in most case carriers. A distaff carrier has a 50% chance of their daughters being carriers and a 50% chance of their sons being affected by the disease. (See fig. 10)18Amelogenesis imperfecta has different modes of inheritance. Hypoplastic(Type I) and Hypomaturation (Type II) AI can be inherited by all three modes of the above inheritance patterns. Hypocalcified (Type III) AI is not inherited via the X-linked pathway and Hypoplasia (Type IV) AI is only passed between generations via the autosomal dominant pathway and only one faulty allele has to be passed to the offspring for them to be affected by amelogenesis imperfecta. 13ConclusionOur nephew has been diagnosed with X-linked amelogenesis imperfecta. taking in account the above information we can now conclude the reason why he but not his parents are affected by the disease is because our sister must be a carrier of the faulty allele of the gene AMELX. Males are hemizygous so the possibility of the breed possesing the faulty allele has been ruled out or he would too be affected by the disease.One can also wear down that he is suffering from either hypoplastic AI or hypomaturation AI as the other two types are not inherited via the X-linked pathway.The marchment of amelogenesis imperfecta will depend on the severity of the condition but it is usually to treat the aesthetic symptoms so crowns may be given to hide the displeasing characteristics of the malformed enamel.