Aquaporin 2 mutations in Trypanosoma brucei gambiense field isolates correlate with decreased susceptibility to pentamidine and melarsoprol. 2013

Fabrice E Graf, and Philipp Ludin, and Tanja Wenzler, and Marcel Kaiser, and Reto Brun, and Patient Pati Pyana, and Philippe Büscher, and Harry P de Koning, and David Horn, and Pascal Mäser
Swiss Tropical and Public Health Institute, Basel, Switzerland ; University of Basel, Basel, Switzerland.

The predominant mechanism of drug resistance in African trypanosomes is decreased drug uptake due to loss-of-function mutations in the genes for the transporters that mediate drug import. The role of transporters as determinants of drug susceptibility is well documented from laboratory-selected Trypanosoma brucei mutants. But clinical isolates, especially of T. b. gambiense, are less amenable to experimental investigation since they do not readily grow in culture without prior adaptation. Here we analyze a selected panel of 16 T. brucei ssp. field isolates that (i) have been adapted to axenic in vitro cultivation and (ii) mostly stem from treatment-refractory cases. For each isolate, we quantify the sensitivity to melarsoprol, pentamidine, and diminazene, and sequence the genomic loci of the transporter genes TbAT1 and TbAQP2. The former encodes the well-characterized aminopurine permease P2 which transports several trypanocides including melarsoprol, pentamidine, and diminazene. We find that diminazene-resistant field isolates of T. b. brucei and T. b. rhodesiense carry the same set of point mutations in TbAT1 that was previously described from lab mutants. Aquaglyceroporin 2 has only recently been identified as a second transporter involved in melarsoprol/pentamidine cross-resistance. Here we describe two different kinds of TbAQP2 mutations found in T. b. gambiense field isolates: simple loss of TbAQP2, or loss of wild-type TbAQP2 allele combined with the formation of a novel type of TbAQP2/3 chimera. The identified mutant T. b. gambiense are 40- to 50-fold less sensitive to pentamidine and 3- to 5-times less sensitive to melarsoprol than the reference isolates. We thus demonstrate for the first time that rearrangements of the TbAQP2/TbAQP3 locus accompanied by TbAQP2 gene loss also occur in the field, and that the T. b. gambiense carrying such mutations correlate with a significantly reduced susceptibility to pentamidine and melarsoprol.

UI MeSH Term Description Entries
D008549 Melarsoprol Arsenical used in trypanosomiases. It may cause fatal encephalopathy and other undesirable side effects. Arsobal,Mel B,Melarsenoxid-BAL,Melarsenoxid BAL,MelarsenoxidBAL
D008969 Molecular Sequence Data Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories. Sequence Data, Molecular,Molecular Sequencing Data,Data, Molecular Sequence,Data, Molecular Sequencing,Sequencing Data, Molecular
D009154 Mutation Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. Mutations
D010419 Pentamidine Antiprotozoal agent effective in trypanosomiasis, leishmaniasis, and some fungal infections; used in treatment of PNEUMOCYSTIS pneumonia in HIV-infected patients. It may cause diabetes mellitus, central nervous system damage, and other toxic effects. Pentamidine Isethionate,Diamidine,Lomidine,NebuPent,Pentacarinat,Pentam,Pentamidin,Pentamidine Mesylate
D004351 Drug Resistance Diminished or failed response of an organism, disease or tissue to the intended effectiveness of a chemical or drug. It should be differentiated from DRUG TOLERANCE which is the progressive diminution of the susceptibility of a human or animal to the effects of a drug, as a result of continued administration. Resistance, Drug
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D014344 Trypanocidal Agents Agents destructive to the protozoal organisms belonging to the suborder TRYPANOSOMATINA. Trypanocidal Drugs,Trypanocides,Trypanosomicidal Agents,Trypanosomicides,Agents, Trypanocidal,Agents, Trypanosomicidal,Drugs, Trypanocidal
D014347 Trypanosoma brucei gambiense A hemoflagellate subspecies of parasitic protozoa that causes Gambian or West African sleeping sickness in humans. The vector host is usually the tsetse fly (Glossina). Trypanosoma gambiense,Trypanosoma brucei gambienses,Trypanosoma gambienses,brucei gambiense, Trypanosoma,brucei gambienses, Trypanosoma,gambiense, Trypanosoma brucei,gambienses, Trypanosoma
D014353 Trypanosomiasis, African A disease endemic among people and animals in Central Africa. It is caused by various species of trypanosomes, particularly T. gambiense and T. rhodesiense. Its second host is the TSETSE FLY. Involvement of the central nervous system produces "African sleeping sickness." Nagana is a rapidly fatal trypanosomiasis of horses and other animals. African Sleeping Sickness,Nagana,African Trypanosomiasis,African Sleeping Sicknesses,African Trypanosomiases,Sickness, African Sleeping,Sicknesses, African Sleeping,Sleeping Sickness, African,Sleeping Sicknesses, African,Trypanosomiases, African
D015800 Protozoan Proteins Proteins found in any species of protozoan. Proteins, Protozoan

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