Angelman Syndrome: Article Critique Essay

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Introduction

Genetically conditioned diseases have long been bothering the minds of scholars. The article titled “Angelman syndrome: Current understanding and research prospects” by Dan (2009) is one of the brightest examples of scholarly work carried out in the process of studying the human genetics and diseases it is subjected to. The article under analysis focuses on the topic of the so-called Angelman syndrome, a genetically conditioned disease allegedly related to “deficient UBE3A gene expression that may be caused by various abnormalities of chromosome 15” (Dan, 2009, p. 2331).

Paper Summary

In more detail, in his article Dan (2009) considers the topic of the Angelman syndrome in all its aspects. Particularly, Dan (2009, p. 2331) starts with presenting the background to the topic and discussing what scholars have achieved in studying this genetic disease. Further on, the author moves to examining the clinical and neurophysiologic features of the Angelman syndrome. Then, the author presents a detailed table of clinical diagnostic features for this syndrome, and starts the discussion of the genetic features of this syndrome (Dan, 2009, pp. 2333, 2335 – 2336).

Strengths and Weaknesses

Strong Points

Needless to say, the analyzed article displays both strong and weak points. The former are mainly related to the manner of data representation, the strong scholarly support of the ideas expressed by the author, and the detailed consideration of any studied aspect of the Angelman syndrome. Further on, the article contains a considerable number experimentally proved facts and assumptions. Finally, Dan (2009, p. 2337) manages to outline the areas for further research on the topic, which adds to the credibility of the article.

Weak Points

At the same time, the article by Dan (2009) displays some weak points. In more detail, these weaknesses include the limited applicability of the article’s findings. The point is that the experimental support for the author’s ideas is derived from the experiments carried out with animals like mice (Dan, 2009, p. 2334). Of course, this does not mean that similar experiment should, or can, be carried out with human beings, but the applicability of animal testing results for analyzing the potential development of the Angelman syndrome in human beings is highly doubted.

Scholarly Value

Hypothesis Support

The hypotheses of the article, that the Angelman syndrome is conditioned by the deficiency of the Ube3a gene in chromosome 15 is a strong one because it is supported by opinions of reputable scholars like Espay et al.,(2005), Lu et al., (2009), and Thibert et al., (2009). At the same time, the experiments and the study of scholarly works on the topic did not allow Dan (2009) to make any complete and finalized conclusions to either support or reject the hypothesis. Therefore, the hypothesis support in this article is based only on previous research, but lacks the empirical experimental basis.

Experimental Evidence

In more detail, the experimental evidence presented in this article is mainly the summary of experiments carried out by prior scholars. Thus, Dan (2009, p. 2333) pays much attention to the concept of “mutation in the maternal UBE3A gene” as one of the basic causes of the Angelman syndrome, reflecting on the ideas by scholars like Kishino et al., (1997) and Matsuura et al., (1997). In particular, Dan (2009) argues about the partial mutation of the maternal UBE3A gene, in which only one copy of this gene is mutated, while another one, that does not carry the necessary genetic information and “a maternal methylation pattern” is intact (p. 2334). In any case, even such a partial genetic mutation results in the Angelman syndrome, because the information bearing gene copy is mutated and functions improperly. However, even despite such a detailed analysis of prior scholars’ findings, the article lacks original experimental findings from studies carried out by Dan (2009).

Relation to Other Articles in the Field

Obviously, the strongest point of the analyzed article is its direct relation and connection to other works in the topic of genetic diseases on the whole and the Angelman syndrome in particular. Considering any aspect of the syndrome, Dan (2009) addresses the views by reputable researchers. Thus, discussing the clinical features of the Angelman syndrome, Dan (2009) incorporates ideas by Williams et al., 2006 and Guerrini et al., (1996), while the analysis of the genetic peculiarities of the syndrome involves the references to Rougeulle et al., (1997) and Lossie et al., (2001). Such a detailed incorporation of prior scholarly works allows assuming that other articles on the topic view the Angelman syndrome similarly to Dan (2009), but they are also similar in their lack of any specific conclusions and generally applicable statement regarding the causes of the disease.

Conclusions and Implications for Further Research

Accordingly, Dan (2009, pp. 2337 – 2338) provides specific guidelines for the areas of the topic that, as he thinks, further research can address. In particular, Dan (2009) stresses the fact that “studies of regulation of UBE3A expression” (p. 2337) can benefit the scholarly knowledge in this area. As well, Dan (2009) finds it necessary to study the ubiquitination pathways of the UBE3A gene expression. Finally, the author sees the future of studying of the Angelman syndrome in targeted interventions that might become possible on the basis of further studies’ results, and this point adds much to the scholarly value of the analyzed paper.

Works Cited

Dan, Bernard. “Angelman syndrome: Current understanding and research prospects.” Epilepsia, 50.11(2009):2331–2339. Print.

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IvyPanda. 2021. "Angelman Syndrome: Article Critique." December 11, 2021. https://ivypanda.com/essays/angelman-syndrome/.

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