Abstract
TSC is one of the communicable diseases that belong to the phakomatoses and, affects at least one person out of every 600 (Kwiatkowski, Holets, & Thiele, 2010). The complication ends up in several lesions that have effects on the nervous system, the lungs, the skin, and the kidneys and displays variant clinical courses as well as phenotypic severity. One of the lesions is the hallmark TSC lesion, and it marks the start of hamartoma, which is a tuber in the cerebral cortex of the brain and has an association with mental retardedness and seizures. The tubers in the cortex usually end up in considerable levels of mortality and morbidity (Plank, Raymond, & Elizabeth, 1998). Patients with the complication also display some levels of brain and kidney malignancies. As a result, there is a consideration that TSC1 could be a form of inheritable cancer syndrome with the suggestion that the genes that cause the TSC1 complication could as well act as tumor suppressors. Genetic studies of TSC1 indicate that the disease has several interesting features such as both sporadic and inherited cases. However, the conclusion is that almost 2/3 of the cases belong to the former category.
The Methods of Research Used In the Article
The studies in the article focused on scientific experimentation, which is a primary source of data. For instance, the researchers wanted to investigate the implications of overexpression of hemartin on the development of morphological characteristics. Therefore, they transfected an entire length of the human cDNA clone into the Rat-2 fibroblast that was immortalized. The experiment also led the scientists to discover several clone lines, which enabled them to proceed with the immunoblotting procedures and then checked it for an expression of hamartin (Benvenuto et al. 2000).
Statistics Used In the Article
The researchers employed an experimental approach to the relationship between the morphological characteristics of individuals and the concentration of the cerebral cortex of their brain. The research also investigated the relationship between the findings that they found in the former experiment and the development of TSC1 in humans (Benvenuto et al. 2000). However, they did not use human subjects in the study because of the consideration of the ethics of human research.
The Findings of the Research
The results of the experimentation procedures in the article indicate that there is a relationship between the TSC concentrations and the morphological transformations (Benvenuto et al. 2000). More precisely, the study revealed that overexpression of TSC had a considerable effect on the morphological transformation of the rat through inhibition of the growth of fibroblasts.
The Reason for the Research and the Usefulness of the Findings
The researchers in the article carried out the research as an initiative that targeted to find the effects of the concentration levels of TCS and its relationship with the development of tuberous sclerosis-1. Their findings could be useful in the diagnosis of the disease in humans and help in the process of planning to deal with such infections (Sampson, 2009). The same findings also gave more clinical knowledge of the disease, which may act as an avenue for the sensitization of clinicians on the procedures of handling it. In my opinion, the article writes about scientific research findings that will provide a useful background for the diagnosis of TSC1 disorder. The research was also done in an ethical context, which is the respect for the use of human subjects in studies. Therefore, I find the results of the study binding to the clinical fraternity.
References
Benvenuto, G., Li, S., Brown, S. J., Braverman, R., Vass, W. C., Cheadle, J. P.,… & DeClue, J. E. (2000). The tuberous sclerosis-1 (TSC1) gene product hamartin suppresses cell growth and augments the expression of the TSC2 product tuberin by inhibiting its ubiquitination. Oncogene, 19(54), 6306-6316.
Kwiatkowski, D. J., Holets, W. V., & Thiele, E. A. (2010). Tuberous Sclerosis Complex: Genes, Clinical Features and Therapeutics. Weinheim: Wiley-VCH.
Plank, Tracey L., Raymond S. Yeung, and Elizabeth Petri Henske. (1998). Hamartin, the product of the tuberous sclerosis 1 (TSC1) gene, interacts with tuberin and appears to be localized to cytoplasmic vesicles. Cancer research 58.21: 4766-4770.
Sampson, J. (2009). Therapeutic targeting of mTOR in tuberous sclerosis. Biochemical Society Transactions, 37(1), 259.