Disease and Drugs

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C. elegans as a model system to study disease and disease genes

Human disease gene orthologs in elegans

Human disease relevance descriptions

Human disease relevance descriptions were introduced in late 2011, on the WormBase gene page, to serve both the worm researcher and the biomedical researcher from outside the worm community. This description alerts researchers to the fact that the worm is either an effective model system or is being developed as a model system to study the disease/gene. For under-studyed genes in elegans for which there are only sequence names, human ortholog and disease information provide clues to the function of the gene.

Human disease relevance descriptions are written in most cases, to include:

  • Orthology to the human disease gene or family of genes, may include domain information.
  • The different types of human diseases known to have mutations in the human gene ortholog. OMIM accession numbers are provided below the description which are links into the OMIM resource.
  • Functional similarities or differences between the human/vertebrate and worm gene.
  • Data from worm studies that add new knowledge, or validate existing knowledge from studies in other species or experimental systems (eg., cell culture, etc.).
  • For understudyed genes in elegans for which there are only sequence names, human ortholog and disease information provide insights into elegans gene function
  • Also serves the purpose of making automated descriptions more information-rich and useful to users:

Example of automated descriptions based on OMIM orthology for elegans genes:

1. T27A3.6 is orthologous to the human gene MOLYBDENUM COFACTOR BIOSYSTHESIS PROTEIN E (MOCS2; OMIM:603708), which when mutated leads to disease.

2. Y24D9A.8 is orthologous to the human gene TRANSALDOLASE 1 (TALDO1; OMIM:602063), which when mutated leads to disease.

For WormBase Progress Report (written May/June 2012)

In recent years, C. elegans has been widely used as a system to study human disease gene orthologs and to model human disease and drug-disease interactions. In early 2012, we began writing ‘Human Disease Relevance’ descriptions, as an addition to the gene pages, keeping in mind the non-worm biomedical community. These descriptions combine information obtained from automated ortholog identification methods which are mostly based on sequence, with curated information about disease modeling, from the published worm literature. These descriptions include the following information: (1) Orthology to the human disease gene or family of genes and domain information (2) Diseases associated with mutations in the human gene, with OMIM accessions which are links into the OMIM resource (Online Mendelian Inheritance in Man; http://www.ncbi.nlm.nih.gov/omim) (3) New information or validations that studies in C. elegans have yielded to the study of disease gene/disease. Currently, we have 80 of these descriptions in the database.

C. elegans as a model to study infectious agents

Bacteria and Biofilms
Parasitic nematodes
Fungal pathogens
  • human fungal pathogen Cryptococcus neoformans

Textpresso keyword search 'Cryptococcus neoformans' returns 117 documents

C. elegans as a model to study metal toxicity and detoxification

Using C. elegans to study the effects of space flight

C. elegans as a model system to study drugs

C. elegans is being used to study:

  • metal toxicity and detoxification
  • the effects of a drug/chemical on disease phenotypes
  • identify gene targets for a given drug/chemical
  • mode of action of a drug/chemical (MOA)

Types of drugs being studied include:

  • Antifungal agents
  • Antimicrobial agents
  • Antiparasitic drugs--Aldicarb, Ivermectin, Levamisole
  • Anti-depressants--Fluoxetine, Imipramine
  • Anaesthic--Halothane
  • Anticancer drugs--Farnesyltransferase inhibitors (FTIs)
  • Anticonvulsants--Ethosuximide, Arimethadione
  • Alkaloid drugs--Nicotine
  • Immunosuppressants--Prednisone
  • Nutritional supplements--Resveratrol, Gingko biloba
  • Opioid toxins--MPTP/MPP+
  • Pychoactive drug--Ethanol

Textpresso-based systems to flag papers

Pipeline for identifying papers with disease or disease gene ortholog