Flow Chart of Genetics of Autism Spectrum Disorder Development, Essay Example

Abstract

Autism spectrum disorder also known by the acronym ASD is representative of a diverse collection of disorders which are challenging to diagnosis and treat. During the past several years, there has been substantial progress in the classification of the genetic risk factors regarding autism spectrum disorder. These genetic risk factors delineate the particular pathways and mechanisms that are the basis of the behavioral deficits associated with its manifestation. The most recent progresses have occurred in the genetic characterization of the risk factors of ASD (Jeste & Geshwind, 2014). The hypothesis that was explored is the genetic factor´s accountability for the symptoms of ASD.

Flow Chart Genetics and Autism Spectrum Disorder Development

As a result the hypothesis formulated for ASD, there are other endophenotypes which can derive benefits from the directed, hypothesis associated treatments. The most innovative technologies are applied for the classification of the genetics which are the basis of ASD. There are three venues which can be considered. These are the genetics of the comorbidities associated with the neuronal systems, the bias regarding gender in ADS and the single gene dysfunctions (Jeste & Geshwind, 2014).

The epidemiological genetics of ASD infers that autism spectrum disorder has an elevated propensity of being inherited. In addition, the qualities which are correlated with the genetic disposition inherited from parents (Jeste & Geshwind, 2014). There are a significant number of variants in the framework of the genetic codes that can facilitate the manifestations of the dysfunctions of the autism spectrum. There are particular variations which are demonstrated as the outcome of substantial segments of genes which are destroyed or incorrectly replicated (Splawski et al., 2006; Weiss, 2009).

Notwithstanding, there are variations of ASD which simply have several base pairs of DNA which have been removed or added to the genetic code, which only influence one gene at any given time. The model of Potocki- Lupski disorder is derived from a substantial duplication of the genetic elements located on chromosome 17 in the reproductive stages in humans. The extensive duplication of the genetic elements has the outcome of mild retardation and slight autism. The replication is a 3.7 Mega base couple replications, aggregating 3,700,000 base couples to the genetic blueprints of a child (Weiss, 2009).

Another genetic disorder could be applied in the review of the causal attributes of ASD, is defined as PWS (Prader- Willi Syndrome). This type of genetic disorder takes place as an outcome in the sexual reproductive cells of the paternal parents which influenced chromosomes number 15. The PWS manifests with a substantial segment of the chromosome approximately 5.2 million base couples which were had been deficient from the chromosome that are inherited by the child from the paternal parent. The children who are affected by PWS syndrome are affected with acute developmental challenges, mental deficits and behavioral challenges as an outcome (Weiss, 2009).

The manifestation of the gene couple in a child is reliant upon which parent the child derives particular areas of chromosome number 15. In the event that the paternal parent is influenced by PWS and passes the additional base gene couples to his progeny, the child will subsequently develop the dysfunction. This is usually the norm with many of the dysfunctions which are found in the category of autism spectrum. In this circumstance of the manifestation of PWS either the maternal parent or the paternal parent may demonstrate a substantial deletion in the chromosome sequence while passing down this quality to their children (Weiss, 2009).

In addition, the occurrence that takes place in PWS can occur in the less expansive areas of the DNA chain. There are certain dysfunctions which have the substantial million pair base modifications and there are other modifications which have the causal attribute of modifications in one of the genetic elements. An example is found in Rett syndrome. Rett syndrome is the outcome of the MECP2 genetic elements on the X chromosome. Rett syndrome is caused by one of the base genetic elements. The modification in the genetic element could be the outcome of a deletion or insertion in the genetic code. The insertion or deletion (Weiss, 2009).

Rett syndrome is the outcome of an X associated dominant genetic element. Research has demonstrated that in the majority of circumstances the mutation from which it is derived originates with the maternal parent. The capacity of Rett syndrome being passed from the maternal parent to progeny is manifested by the children. Rett syndrome is demonstrated by the temporal interval in development where the cognitive development of the child is stagnant. As an outcome of the manifestations of Rett syndrome, the child´s development is affected. The child initiates development regression in cognition and communication skills. The regression has the result of influencing the child´s mnemonic retention. The inability to retain things which had been learned during an earlier stage of development is shown. The symptoms of Rett disorder have the effect of the causal attributes that are linked with autism (Weiss, 2009).

Studies have demonstrated that autism spectrum syndrome is also caused by Timothy syndrome. The studies that have been conducted by Splawski et al. (2004) show that mutations of the CACNA1H genetic element and the dysfunctional calcium conduits. The R212C, R902W and the W962 mutations that occurred in the CACNA1H genetic element disorders in the aperture and closing of the calcium ion conduits (Splawski et al., 2004). These mutations had not been determined as the causal attribute of Timothy syndrome. The G406R mutation had been proven to be the causal attribute of Timothy syndrome (Splawski et al., 2006).

Conclusion

The studies that have been conducted by Jeste and Geshwind (2014), Splawski et al. (2004, 2006) and Weiss (2009) have confirmed the hypothesis derived in the autism spectrum flow chart. The hypothesis was that autism is predominantly caused by genetic factors. As a result, the proposed hypothesis is confirmed.

References

Jeste, S. S. & Geshwind, D. H. (2014). Disentangling the heterogeneity of autism spectrum disorder through genetic findings. Nature Reviews Neurology, 10: 74- 81.

Splawski, I. Timothy, K. W., Sharpe, L. M., Decker, M. Kumar, P.… & Keating, M. T. (2004).Ca_v1.2 calcium channel dysfunction causes a multisystem disorder including         arrhythmia and autism. Cell, 119(1): 19- 31.

Splawski, I., Yoo, D. S., Stotz, S. C. Cherry, A., Chapham, D .E. & Keating, M. E. (2006). CACNA1H Mutations in autism spectrum disorders. Journal of Biological Chemistry, 281(31): 22085- 22097.

Weiss, L. (2009). Autism genetics: Emerging data from genome wide copy number and single nucleotide polymorphism scans. Expert Review of Molecular Diagnostics, 9(8): 795- 803.