Fly model causes neurological rethink

Abstract

A Drosophila model for a neurological disorder called type 2B Charcot-Marie-Tooth disease reveals that it has its origins in a partial loss of function, rather than a gain of function, which points to the need for a new therapeutic approach.

Keywords: animal models of disease; endosome; genetics; neuropathy; synapse.

Figure 1.. Two models for linking mutations in the rab7A gene to type 2B Charcot-Marie-Tooth (CMT2B) disease.

Some researchers have argued that the disease is caused by the mutations leading to enhanced Rab7A activity (Model 1), which suggests that the disease could be treated by inhibiting the Rab7A pathway. However, Cherry, Jin et al. propose that the primary cause of the disease is a lack of Rab7A activity (Model 2), which suggests that patients with CMT2B disease should be given treatments that stimulate rather than inhibit the Rab7 pathway.