In 1963, Peter Medawar wrote an essay entitled “Is the Scientific Paper a Fraud?”. He meant this not in terms of a deliberate deception, but as a way of expressing the fact that its form “misrepresents the processes of thought that accompanied or give rise to the work that is described in the paper”. One additional way in which the form of a published paper can be somewhat misleading arises when, to improve the logical flow of a manusript, results are reported in a sequence that does not represent the order in which they were originally generated. On 25 June we published a paper from a group led by Christine Petit of the Pasteur Institute in Paris. The paper describes the identification of mutations in a gene encoding a protein called pejvakin in two families from Iran. These families have several individuals with autosomal recessive auditory neuropathy, a form of nonsyndromic deafness in which the defect is not in the cochlea, but somewhere in the neural transmission of the auditory signal. The identification of pejvakin is exciting because it provides one of the first glimpses at the molecular level of how deafness might arise from altered function of auditory neurons. Petit and colleagues show later in the paper that mice harboring a mutation in the ortholog of pejvakin have a similar phenotype. Thus, the mouse lends support to the human findings. In fact, it was the other way around.

Christine Petit explains:

Briefly, we started the study reported in our paper with only some quite basic audiometric information concerning some deaf families living in very remote villages up in the Iranian mountains. In actual fact, it is through the generation and study of the corresponding mouse model that we discovered that the knock-in mice were affected with an auditory neuropathy. This raised the key issue of whether or not the deaf individuals were suffering from auditory neuropathy as well. We then undertook the arduous task of organizing clinical investigations of these patients who were kindly willing to travel an entire day to get to the city. The exams were performed on our behalf by Iranian clinicians, and back in Paris, some 3,500 miles away, we were anxiously waiting on the phone to hear about their diagnosis. The otoacoustic emissions were indeed preserved in the two deaf families examined. In addition, there was also evidence for desynchronized auditory brainstem responses! Together, the animal model was closely mimicking the auditory neuropathy present in these individuals! Isn’t this a good illustration that there is sometimes quite a gap between the way results are presented and the way they are obtained?

In the acknowledgements, the authors thank the staff at the Pasteur Institute of Iran for their help in collecting samples. A brief introduction to this institute can be found here.