Angelman Syndrome: Article Critique Essay

Exclusively available on Available only on IvyPanda® Made by Human No AI

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.

More related papers Related Essay Examples
Cite This paper
You're welcome to use this sample in your assignment. Be sure to cite it correctly

Reference

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

Work Cited

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

References

IvyPanda. (2021) 'Angelman Syndrome: Article Critique'. 11 December.

References

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

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


Bibliography


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

If, for any reason, you believe that this content should not be published on our website, please request its removal.
Updated:
This academic paper example has been carefully picked, checked and refined by our editorial team.
No AI was involved: only quilified experts contributed.
You are free to use it for the following purposes:
  • To find inspiration for your paper and overcome writer’s block
  • As a source of information (ensure proper referencing)
  • As a template for you assignment
Privacy Settings

IvyPanda uses cookies and similar technologies to enhance your experience, enabling functionalities such as:

  • Basic site functions
  • Ensuring secure, safe transactions
  • Secure account login
  • Remembering account, browser, and regional preferences
  • Remembering privacy and security settings
  • Analyzing site traffic and usage
  • Personalized search, content, and recommendations
  • Displaying relevant, targeted ads on and off IvyPanda

Please refer to IvyPanda's Cookies Policy and Privacy Policy for detailed information.

Required Cookies & Technologies
Always active

Certain technologies we use are essential for critical functions such as security and site integrity, account authentication, security and privacy preferences, internal site usage and maintenance data, and ensuring the site operates correctly for browsing and transactions.

Site Customization

Cookies and similar technologies are used to enhance your experience by:

  • Remembering general and regional preferences
  • Personalizing content, search, recommendations, and offers

Some functions, such as personalized recommendations, account preferences, or localization, may not work correctly without these technologies. For more details, please refer to IvyPanda's Cookies Policy.

Personalized Advertising

To enable personalized advertising (such as interest-based ads), we may share your data with our marketing and advertising partners using cookies and other technologies. These partners may have their own information collected about you. Turning off the personalized advertising setting won't stop you from seeing IvyPanda ads, but it may make the ads you see less relevant or more repetitive.

Personalized advertising may be considered a "sale" or "sharing" of the information under California and other state privacy laws, and you may have the right to opt out. Turning off personalized advertising allows you to exercise your right to opt out. Learn more in IvyPanda's Cookies Policy and Privacy Policy.

1 / 1