Achondroplasia & FGFR3
This page was produced as an assignment for Genetics 677 at UW-Madison, Spring 2010
News article and scientific paper comparison
It can be quite interesting to compare a scientific paper with the news paper article written about its findings. Scholarly articles are written to communicate findings with other scientists possessing the same background knowledge. Their purpose is to describe experiments in extreme detail, and then share the conclusions drawn from the findings, ideally prompting further studies based on the discoveries. However, when research discovers something that is of interest to the general public, news reporters are in the somewhat unenviable position of trying to translate these science-dense articles into something that is palatable for the average reader.
The popular press article I found came from the New York Times and announces the discovery of the gene mutation that causes achondroplasia. The article first discusses the remarkable speed with which the gene was found by Dr. Wasmuth and his team, as well as it's location on chromosome 4. However, there is no mention of any of the methods used, and the name of the gene is only mentioned once in its abbreviated form--FGFR3. Beyond this information, the article discusses the mutation, describing it briefly as "a tiny bit of incorrect information" similar to "changing one letter in a word in a paragraph." While one of the jobs of a popular press article is to summarize the findings in a language that the general public could understand, this description of the defect seems absurdly simple. Additionally, the article concludes by discussing the chances of a child receiving the defect, however it only discusses the probabilities if one or both parents have the mutant gene. They completely overlook the fact that 80 percent of cases result from de novo mutations. This article gives us the only the most basic information about the discovery of the gene but completely sidesteps describing its function, as well as missing some other crucial information about the gene and its related disorder.
In contrast, the scientific literature gave all of the information anyone could ever possibly desire pertaining to the discovery of the achondroplasia gene. Which is, of course, true to its purpose. Based on findings from other researchers that the gene is located on chromosome 4, they looked at genes located within this candidate region, which had been previously characterized while looking for the gene that caused Huntington's. Knowing that the FGFR3 gene is found in this location and that it was involved in bone growth, the researcher chose to investigate it. Using PCR and DNA sequencing, they examined this region in 16 different cell lines from individuals that were either homozygous or heterozygous for Achondroplasia, additionally some of these cases were inherited while others were sporadic. From these samples, 15 had the same mutation at allele 1138, a transition from guanine to adenine. The other also had a mutation at allele 1138, but instead it was a transversion to cytosine. However, both of these mutations end up with the same change in the 380 amino acid of the protein from a glycine to an arginine showing that the disorder is caused by one very specific mutation.
In addition to its findings, the paper also includes a long discussion of the function of the fibroblast growth receptor as well as its genes and isoforms, which helps both as background information as well as assisting in supporting the discovery. Finally, the paper mentions the ease with which an embryo can be tested for achondroplasia, as the test was established in this study and requires only a PCR and one restriction digest. This does prompt my only critique of the study, if the test is so simple, why did the researchers not test more cases once they noticed such a clear pattern in the mutant gene. A larger sample can definitely help to support findings, and when one is so easy to obtain it definitely begs the question, why not?
News Article from The New York Times: Genetic Defect for a Type of Dwarfism Is Found
Scientific Literature: Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia
