Huntingtin and Huntington's Disease


This website was produced as an assignment for Genetics 677 at UW-Madison Spring 2009

"Researchers Locate Gene that Triggers Huntington's Illness"

The following is a review of an article published in the New York Times regarding the original discovery of the protein responsible for Huntington's disease.  A review of the actual scientific paper can be found here.  A comparison between the popular press and scientific articles can be found here

Written by Eric Nickels                                                                                                                                  2/22/2009


The article written by Natalie Angier for the New York Times summarizesa scientific report released by the Huntington's Disease Collaborative ResearchGroup published in the scientific journal the Cell

The article written by NatalieAngier for the New York Timessummarizes a scientific report released by the Huntington's DiseaseCollaborative Research Group published in the scientific journal the Cell.   The original paper describes the discoveryof the mutant gene responsible for Huntington’s disease in 1993.   The author provides background informationregarding the prevalence of the disease and specific details on the physicalmanifestations of the mutated protein huntingtin.  Angier interviews scientists connected to theresearch group and others working on Huntington’s disease to reference theimportance of the discovery.  Theextensive time period spent searching for the gene is highlighted inparticular.  Finally, Angier includesinformation specific to the type of mutation resulting in the disease, theexpanded set of trinucleotide repeats in the HTTgene. 

Angier successfully describes thecomplex biochemistry involved in the mutation, especially when considering therelative lack of background information available to the average reader in1993.  The target audience is the generalpublic; thus the background information on the disease provides not onlyinteresting and engaging topics, but also useful information to understand thenature of the genetic mutation.  Forinstance, the chronology described in the process of determining the geneallows the reader to gain some insight into the scientific processes involvedin the determination of a disease causing mutation.  Angier also provides direct, uncomplicatedlanguage to describe the actual biochemistry underlying the mutation,stating,  “In the Huntington's gene, themutation affects a triplet of genetic subunits, or bases, represented by thechemical initials CAG,” accounting for readers likely unexposed to geneticterminology.  Angier later describes theCAG repeat as a “molecular stutter,” successfully depicting the mechanism ofthe mutation while utilizing straightforward, common language. 

            While muchof the information regarding the Huntington’smutation focuses on the specific findings of the report, Angier shifts much ofthe story from detailing the research to creating a storyline around thediscovery.  The article generally focuseson the difficult and arduous task the researchers searching for the gene finallyaccomplished.  “After 10 backbreakingyears in a research purgatory of false leads, failed experiments and longstretches of mordant despair, an international team of scientists says it hasdiscovered the most coveted treasure in molecular biology, the gene behindHuntington's disease,” states Angier, highlighting the sensationalizinglanguage used to describe the long process to discovery.  Thus, the importance of the study shifts fromfinally uncovering the key component of Huntington’s disease to a finality,hinting the discovery of the gene indicates all research surroundingHuntington’s is possibly concluded.  Theimportance of the gene as a step in the long process of curing the disease is slightlyobscured.  The background information,while useful in introducing the reader to the disease, similarly hides the truefocus of the reviewed research paper. Thus, while some amount of background is necessary to keep the readerinterested and characterize the disease; in this case Angier leans too heavilyon facts not central to the scientific discovery.  Likewise, the author fails to successfulcommunicate the methods used in uncovering the Huntington’s disease gene. 

Reference

Angier, Natalie (1993, March 24).  "Researchers Locate Gene that Triggers Huntington's Illness."  The New York Times.

Created by Eric Nickels enickels@wisc.edu       3/6/2009      Genetics 677 Webpage