Vitiligo: NLRP1
Scholarly scientific journal articles are what make up the very foundation and progression of scientific discovery. Researchers use scholarly journal articles of their esteemed colleagues to aid in their own scientific endeavors, often using them to develop protocols and as a guiding direction on research projects. Thus, they serve as a valuable means of communication within the scientific community.
While the scientific community depends on these articles to aid in their research, scholarly articles often contain far more detail than the general public understands and/or desires to understand. Therefore, authors of popular press articles seek to find the main points of published primary literature and summarize the article in a manner that can be easily understood and digested by the general public. Popular press articles serve as the communication connection between the scientific community and the general public.
MedicalNewsToday.com[1] published an article in March of 2007 summarizing the findings of a study published in The New England Journal of Medicine [2] also in 2007. The press article addressed the who, what, when, where, and how of the journal article, thus successfully capturing the main points expected by its audience. Furthermore, the article highlights the relevance and implications of this research. Providing information for the relevance of a study helps an audience understand the need and importance of the research being conducted and its connection to day-to-day life. As taxpayer money is responsible for much of research funding, it is important to indicate why the study is worthwhile.
Researchers at St. George's, University of London, the University of Colorado at Denver and Health Sciences Center (UCDHSC) and the Barbara Davis Center for Childhood Diabetes conducted a study on 656 patients from 114 extended families with vitiligo or other associated autoimmune diseases. The study sought to find a genetic link to vitiligo and its associated autoimmune disease.
The press article explains that the researchers searched the genome, leaving the details of this method to the journal article, and discovered that NALP1 (now known as NLRP1) is connected to vitiligo. One of the article's strengths is that it provides context. The article explains that the NALP1 gene is associated with immune system response to viral and bacterial attack, thus explaining why other autoimmune diseases in addition to vitiligo are of interest in this study. The article goes on to explain that when the sensor of NALP1 is over-reactive, it can respond and react to the wrong stimuli.
The study is the first of its kind to show that NALP1 is associated with autoimmune diseases. Thus, this observation will help lead to other studies that seek to find the specific mechanisms that yield defects in this gene, causing vitiligo. Furthermore, the article indicates that there may be environmental factors that play a role in triggering vitiligo and other autoimmune diseases. By understanding genetic links of autoimmune diseases, researchers can begin to develop treatments that help cure these diseases.
While the press article covers the main points of the paper and successfully incorporates the direction of the study, the primary literature explains these points in explicit detail. The authors of the primary literature required human subjects with vitiligo or other autoimmune diseases like lupus or psoriasis. Using genotyping kits, the researchers discovered 177 single-nucleotide polymorphisms (SNPs) and localized most of these SNPs to the protein domain NACHT within the NALP1 gene on chromosome 17. Of notable interest, only when the patient with vitiligo had an additional autoimmune disease, was the disease linked to this region on chromosome 17. The study was very thorough and made sure that the results of their findings were reproducible.
The paper relied heavily on statistical methods and applications of the Hardy-Weinberg equilibrium to arrive at its conclusions. Without a strong background in statistics, the paper can be difficult to understand. However, these statistical manipulations led to hypotheses that apparent associations of disease with multiple markers in the NALP1 region was reflected in multiple independent causal variants or as a result of linkage disequilibrium between multiple markers and one true causal variant. Interestingly, two independent signals associated with autoimmune diseases were detected: one located within the NALP1 gene and one in the promoter region.
NALP1 is believed to mediate activation of the immune system response in response to bacterial and viral attack. It is normally expressed at low levels, but has been seen to be expressed at high levels within T cells (cells associated with immune response). NALP1 recruits caspases to the NALP1 inflammasome which activates proinflammatory cytokine interleukin-β. Patients with vitiligo have elevated levels of of serum interleukin-β. NALP1 appears to play a role in apoptosis, and its overexpression stimulates caspase-mediated apoptosis in many cell types, including skin cells.
References:
[1] "Researchers Discover 'vitiligo Gene', Paving The Way For New Treatments." Medical News Today. Web. <www.medicalnewstoday.com>.
[2] Jin, Ying, Katherine Gowan, and Christina M. Mailloux. "NALP1 in Vitiligo-associated Multiple Autoimmune Diseases." The New England Journal of Medicine 356.12 (2007): 1216+. EBSCO Host. Web
While the scientific community depends on these articles to aid in their research, scholarly articles often contain far more detail than the general public understands and/or desires to understand. Therefore, authors of popular press articles seek to find the main points of published primary literature and summarize the article in a manner that can be easily understood and digested by the general public. Popular press articles serve as the communication connection between the scientific community and the general public.
MedicalNewsToday.com[1] published an article in March of 2007 summarizing the findings of a study published in The New England Journal of Medicine [2] also in 2007. The press article addressed the who, what, when, where, and how of the journal article, thus successfully capturing the main points expected by its audience. Furthermore, the article highlights the relevance and implications of this research. Providing information for the relevance of a study helps an audience understand the need and importance of the research being conducted and its connection to day-to-day life. As taxpayer money is responsible for much of research funding, it is important to indicate why the study is worthwhile.
Researchers at St. George's, University of London, the University of Colorado at Denver and Health Sciences Center (UCDHSC) and the Barbara Davis Center for Childhood Diabetes conducted a study on 656 patients from 114 extended families with vitiligo or other associated autoimmune diseases. The study sought to find a genetic link to vitiligo and its associated autoimmune disease.
The press article explains that the researchers searched the genome, leaving the details of this method to the journal article, and discovered that NALP1 (now known as NLRP1) is connected to vitiligo. One of the article's strengths is that it provides context. The article explains that the NALP1 gene is associated with immune system response to viral and bacterial attack, thus explaining why other autoimmune diseases in addition to vitiligo are of interest in this study. The article goes on to explain that when the sensor of NALP1 is over-reactive, it can respond and react to the wrong stimuli.
The study is the first of its kind to show that NALP1 is associated with autoimmune diseases. Thus, this observation will help lead to other studies that seek to find the specific mechanisms that yield defects in this gene, causing vitiligo. Furthermore, the article indicates that there may be environmental factors that play a role in triggering vitiligo and other autoimmune diseases. By understanding genetic links of autoimmune diseases, researchers can begin to develop treatments that help cure these diseases.
While the press article covers the main points of the paper and successfully incorporates the direction of the study, the primary literature explains these points in explicit detail. The authors of the primary literature required human subjects with vitiligo or other autoimmune diseases like lupus or psoriasis. Using genotyping kits, the researchers discovered 177 single-nucleotide polymorphisms (SNPs) and localized most of these SNPs to the protein domain NACHT within the NALP1 gene on chromosome 17. Of notable interest, only when the patient with vitiligo had an additional autoimmune disease, was the disease linked to this region on chromosome 17. The study was very thorough and made sure that the results of their findings were reproducible.
The paper relied heavily on statistical methods and applications of the Hardy-Weinberg equilibrium to arrive at its conclusions. Without a strong background in statistics, the paper can be difficult to understand. However, these statistical manipulations led to hypotheses that apparent associations of disease with multiple markers in the NALP1 region was reflected in multiple independent causal variants or as a result of linkage disequilibrium between multiple markers and one true causal variant. Interestingly, two independent signals associated with autoimmune diseases were detected: one located within the NALP1 gene and one in the promoter region.
NALP1 is believed to mediate activation of the immune system response in response to bacterial and viral attack. It is normally expressed at low levels, but has been seen to be expressed at high levels within T cells (cells associated with immune response). NALP1 recruits caspases to the NALP1 inflammasome which activates proinflammatory cytokine interleukin-β. Patients with vitiligo have elevated levels of of serum interleukin-β. NALP1 appears to play a role in apoptosis, and its overexpression stimulates caspase-mediated apoptosis in many cell types, including skin cells.
References:
[1]
| vitiligo_research_paper.pdf |
Sarah Hamilton
March 9, 2010
This Web site was created as a project for Genetics 677 at UW-Madison
Spring 2010
March 9, 2010
This Web site was created as a project for Genetics 677 at UW-Madison
Spring 2010
