Essay Example on Genetic Diseases: Single Gene Inheritance & Its Types

Introduction

Genetic diseases can are illnesses due to an abnormality existing within a person's genome. There exist various types of genetic inheritance: The first is the single gene inheritance, also referred to as monogenic or Mendelian inheritance (Aps, 2019, pp. 71-75). These are due to mutations occurring within the DNA sequence of a gene. Typical examples here are sickle cell anaemia and cystic fibrosis and passes on in recognizable patterns as either autosomal dominant, X-linked or autosomal recessive. The second is Multifactorial inheritance, also referred to as polygenic or complex type. This type is due to a mix of multiple gene mutations and environmental factors. Notable examples here include cancer, high blood pressure, and arthritis. The third type is the abnormalities of the chromosome. Chromosomes are the distinct structures composed of protein and DNA situated within the nucleus of every cell (Aps, 2019, pp. 76-79).

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Given that the chromosomes are the bearers of the genetic material, any chromosomal abnormality in the form of structure or numbers can lead to illness. The common diseases here are Down syndrome and Klinefelter syndrome. The last one is the mitochondrial inheritance, caused by a mutation in a mitochondria's nonchromosomal DNA (de La DureMolla et al. 2019, pp. 1913-1918). Mitochondria are round, rod-like, and small cell organelles that aids in cellular respiration. They exist within the cell cytoplasm of animal and plants. Illnesses here include Leber's hereditary optic atrophy and Myoclonus Epilepsy with Ragged Red Fibers (MERRF). It is in this category that most dental anomalies belong. Dental anomalies refer to the changes that occur on the original dental tissue; hence they originate from the dentin or the cementum. Anomalies vary from slight deviations to drastic variations (de La DureMolla et al. 2019, pp. 1919-1921).

Causes of Dental Anomalies

Causes can be several factors or just a small environmental variation. Some reasons may be intrinsic, like metabolic dysfunction, heredity, or due to mutations (Fekonja, 2017, pp. 276-278). Others may, however, be extrinsic and include chemical or physical trauma nutritional deficiencies, habits, nutrition, stress, or conditions in the environmental conditions. Anomalies do result from a mix of both the extrinsic and intrinsic factors. Genetic anomalies are those due to a person's genetic make-up. Those that occur at birth are congenital anomalies; those conditions evident during the formation and development of the teeth are called developmental anomalies (Fekonja, 2017, pp. 279-281).

Pathogenesis

Dental anomalies occur due to complicated multifactorial interactions between epigenetic, genetic, and environmental factors during teeth development. The interactions cause changes to the typical odontogenesis system, which may affect the primary, permanent, or both dentitions (Hekmatfar, 2018, pp. 64-66). The result is the unusual nature of the tooth in the form of shape, size, and structure. The pathogenesis of dental anomalies occurs in two categories. The first are those that form during the initiation of the tooth gum, and the second is anomalies happening at the time of morphodifferentiation and histodifferentiation of the tooth gum Flaitz, 2019, pp. 28-33).

Disturbances during Initiation

The first is the hypodontia, which refers to the lack of one or several primary or secondary teeth at the time of development. It is widespread, and clinical management may be a challenge. The complication may be a familial condition-it affects mainly members of the same family, with a history of such a difficulty. It is a multifactorial illness with both the environmental and genetic causes involved. It exhibits itself in cleft lip and cleft palate (Hekmatfar, 2018, pp. 66-68).

Hyperdontia is a condition whereby there occurs the production of extra teeth. The production may happen either in succession either as a post permanent or predeciduous growth or as new growth, making the person have more of any group of teeth. How this supernumerary of teeth occurs is still unclear, but the atavism process (evolutionary throwback) has always explained the condition (Rohilla, 2017, pp. 19-25). The dichotomy theory stated that the tooth bud might split into two symmetrical or sometimes asymmetrical teeth.

Disturbances during morphodifferentiation and histodifferentiationMicrodontia is a medical term used to explain teeth that are smaller way out of the variation limits (Roslan et al, 2018, pp. 1-3). It mostly affects the third molars and the maxillary lateral incisor. It exists as truly generalized microdontia, a rare condition, whereby all the teeth are smaller than usual. The other class is the relative generalized microdontia, whereby average or slightly lower than regular teeth exists in that are larger than average (Rohilla, 2017, pp. 19-25). Proportional microdontism links to dwarfism because of a malfunctioning of the pituitary gland. Cross inheritance is a cause of the existence of small teeth in a standard or large jaw. The disease is inherited and is common in maxillary second incisors, the weakest teeth.

Macrodontia is a reference to those teeth that are larger than usual. It exists as a genuinely generalized macrodontia, which is a case where all the teeth are more extensive than usual. It is a rare condition linked to pituitary gigantism (Roslan et al, 2018, pp. 4-6). The other type is the relatively generalized macrodontia, whereby average or slightly larger than regular teeth exists in small jaws. Such is also a rare condition. The cause is due to hyperpituitarism, which causes a lengthening of the bones and teeth. Disproportional dental gigantism suggests a case of cross inheritance-one parent with large teeth, the other with small skeleton and jaws (Rohilla, 2017, pp. 19-25).

Dens invaginatus is an embryologic condition causing the invagination of the melodentinal structure inside the pulp. Several models have tried to explain this condition. One is that it happens when the internal enamel epithelium fails to grow. The failure then results in the proliferation of the epithelium surrounding the gum area. Another school of thought is that a distortion occurring on the enamel during teeth development, leading to a part of the enamel. Other suggestions gave been trauma, infection, and genetics (Rohilla, 2017, pp. 19-25).

Dens evaginatus is a rare dental complication whereby an additional tubercle or cusp protrudes from the surface of the defective tooth. The cause is an abnormal proliferation of the epithelium of the inner enamel into the stellate reticulum of the enamel organ. Another cause is hereditary due to genitival factors. Other reasons are trauma or local insults of the gum (Rohilla, 2017, pp. 19-25).

Talon cusp is a condition whereby the maxillary central incisor exhibits a horn-like protrusion emanating from the lingual surface. In incisors and canines, it originates from the palatal cingulum as a projection from the palatal surface, which also affects the tooth's labial surface (Roslan et al, 2018, pp. 8-10). This condition is multifactorial, having both environmental and genetic causes. It happens at the odontogenesis and morphodifferentiation stage, which affects the size and shape of a tooth. Other reasons may be an outward folding of the inner enamel and genetics. It may also result from localized insults and trauma on the tooth germ (Rohilla, 2017, pp. 19-25).

Taurodontism is a condition exhibited by an enlargement of the pulp area and may extend to the proximity of the root top. It is common in the Middle East. It originates from a delayed transformation of the enamel into various sheets of Hertwig, which do begin soon after the crown forms. Other causes have are a Mendelian recessive trait and mutation, among others (Rohilla, 2017, pp. 19-25).

Fusion is the act of joining up of two tooth buds at some point in their growth. Here, two tooth germs, usually separated tooth germs, join (Roslan et al, 2018, pp. 11-13). The explanation has been that joined teeth are due to some physical actions, like some pressure pushing developing tooth germs to get into contact with each other, making the necrosis of the intervening tissue. Such a move will also see the dental papilla and the enamel organ unite. If this occurs early in the stage of development, then the crown may join together, leading to the formation of one massive tooth. An occurrence at a later level will only see the union of the roots (Rohilla, 2017, pp. 19-25).

Germination is the formation of two teeth from one follicle, though an attempt of separation may be seen by depression or groove, trying to delineate two teeth. The cause is an abnormal odontogeny. It is also caused by schizodontism, which is a split in the tooth gum at the development stage, or synodontism, which is the joining of a healthy tooth bud with another, from a supernumerary tooth just developing (Rohilla, 2017, pp. 19-25).

Concrescence occurs after the formation of the roots and in the cementum of the teeth close to each other. It is common in the maxillary molars. It may also happen between regular molars, a standard molar, and a supernumerary molar. Cases may be crowding of the teeth or trauma. The adjacent tooth becomes fused as cementum gets deposited between the teeth. A carious lesion leading to inflammation may also cause it (Rohilla, 2017, pp. 19-25).

Dilaceration refers to an angular position existing between parts of a tooth. The reason for this is an abnormality during tooth formation, displacing the calcified area. When a deciduous penetrates the jaw, it causes injury to the gum of the permanent successor. As the germs develop, they get closer to the roots of the deciduous teeth (Roslan et al, 2018, p. 14). Circular hypoplasia may also occur if there is a displacement of the already calcified part of the germ due to causes like trauma. Researchers note that such a movement may produce a bone wound and a scar, causing root curvature. The growing root forces the calcified section onto the scar, driving it into an abnormal direction. It is said to be preceded by a traumatic injury on the deciduous predecessor (Rohilla, 2017, pp. 19-25).

Conclusion

In conclusion, therefore, it is evident that there exists a connection between genetic diseases and dental anomalies. The genetic make-up of an individual affects the sense that the genomes are the repositories of the genetic make-up of an individual. Dental anomalies refer to the changes that occur on the original dental tissue; hence their origin can be traced to the dentin or the cementum. Anomalies vary from slight deviations to drastic variations. Several factors are responsible for the healthy growth of the occlusion, causing interference in the teeth alignment, and the coexistence with the elements close by.

Evaluation of the variances in dentition involves being familiar with how healthy teeth development occurs and the stages it passes through. It is proper to have early detection of the dental anomalies is necessary for evaluation and the commencement of treatment. The dentist should also be keen to note when it begins to interfere in the normal growth of occlusion. Treatment should then commence immediately to avert malocclusion.

References

Aps, J., 2019. Common Dental Anomalies in Pediatric Dental Practice. In Imaging in Pediatric Dental Practice (pp. 71-94). Springer, Cham.

https://link.springer.com/chapter/10.1007/978-3-030-12354-3_7de La...