A review of the primary research article describing the discovery of the Dystrophin protein and a popular press article that reported this finding to the general public
In 1987, Dr. Louis Kunkel and his team of researchers discovered the protein deficient in individuals with Duchenne muscular dystrophy (DMD). The group published their findings in the December issue of Cell. In the article, they explained that they used E. coli to translate the previously discovered DMD cDNA into the predicted DMD protein. They then used the protein segments to create antibodies for the DMD protein [1].
Tissue samples from normal and dystrophic human and mice were then examined for the presence of the DMD protein by Western blot analysis using the previously generated antibodies. The scientists found that the predicted protein (about 400 kD in size) was present in wildtype human and mouse skeletal and cardiac muscle, but present lightly only in human brain tissue. Samples from the same tissue types in DMD affected humans and mice, however, were devoid of the protein. This confirmed that the researchers had correctly identified the protein whose absence is responsible for the DMD phenotype. The group named the protein “dystrophin”. Finally, the researchers used western blot analysis to estimate that the relative cellular abundance of the dystrophin protein is about 0.002% of total muscle protein [1].
Harold Schmeck Jr. wrote the New York Times article that described this discovery to a larger and more general audience. Schmeck did a good job describing the basics of Duchenne muscular dystrophy, and even gave a brief summary of the genetics concepts involved [2]. The article, however, didn’t give any description of the methods that Dr. Kunkel’s lab used to find the protein. It is difficult to convey the complicated molecular biology approaches used in the research to the general public, but it would have been good if Schmeck made an effort to use common terms to describe the general methods used. In my opinion, saying something like, ‘the researchers used the DNA previously identified as the DMD gene to predict the resulting DMD protein, and they used this to make antibodies (molecular scavengers) that indicated the presence of the protein’ would have been a comprehensible way to describe the basic methodology to the readers.
The New York Times article, however, did a great job explaining the possible medical implications of these findings. In explaining the potential benefits of the discovery, the author cited the lead researcher (Dr. Kunkel), the Muscular Dystrophy Association, and an author (Dr. Slater) who wrote an editorial about the finding in the journal Nature. Calling it “a landmark achievement”, Dr. Slater and all other quoted individuals were optimistic for the possible discoveries and therapeutic treatments that might follow the discovery. Following the optimism, Schmeck was thoughtful in mentioning that although the finding is undoubtedly a breakthrough, “the task of translating the discovery into practical medical use may take a long time”[2]. As time has shown us, this cautious optimism was very appropriate since current DMD therapy still relies on treating the symptoms, not the genetic cause of the disease.
Tissue samples from normal and dystrophic human and mice were then examined for the presence of the DMD protein by Western blot analysis using the previously generated antibodies. The scientists found that the predicted protein (about 400 kD in size) was present in wildtype human and mouse skeletal and cardiac muscle, but present lightly only in human brain tissue. Samples from the same tissue types in DMD affected humans and mice, however, were devoid of the protein. This confirmed that the researchers had correctly identified the protein whose absence is responsible for the DMD phenotype. The group named the protein “dystrophin”. Finally, the researchers used western blot analysis to estimate that the relative cellular abundance of the dystrophin protein is about 0.002% of total muscle protein [1].
Harold Schmeck Jr. wrote the New York Times article that described this discovery to a larger and more general audience. Schmeck did a good job describing the basics of Duchenne muscular dystrophy, and even gave a brief summary of the genetics concepts involved [2]. The article, however, didn’t give any description of the methods that Dr. Kunkel’s lab used to find the protein. It is difficult to convey the complicated molecular biology approaches used in the research to the general public, but it would have been good if Schmeck made an effort to use common terms to describe the general methods used. In my opinion, saying something like, ‘the researchers used the DNA previously identified as the DMD gene to predict the resulting DMD protein, and they used this to make antibodies (molecular scavengers) that indicated the presence of the protein’ would have been a comprehensible way to describe the basic methodology to the readers.
The New York Times article, however, did a great job explaining the possible medical implications of these findings. In explaining the potential benefits of the discovery, the author cited the lead researcher (Dr. Kunkel), the Muscular Dystrophy Association, and an author (Dr. Slater) who wrote an editorial about the finding in the journal Nature. Calling it “a landmark achievement”, Dr. Slater and all other quoted individuals were optimistic for the possible discoveries and therapeutic treatments that might follow the discovery. Following the optimism, Schmeck was thoughtful in mentioning that although the finding is undoubtedly a breakthrough, “the task of translating the discovery into practical medical use may take a long time”[2]. As time has shown us, this cautious optimism was very appropriate since current DMD therapy still relies on treating the symptoms, not the genetic cause of the disease.
Download the original primary research article:
| primaryresearcharticle.pdf |
Download the popular press article:
| newyorktimesarticle.pdf |
This site was created by Anthony Parendo for an undergraduate Genetics 677 course at the University of Wisconsin-Madison.
