C. elegans models for human disease in the literature

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1. Neuromuscular diseases:

Amyotrophic Lateral Sclerosis, Duchenne Muscular Dystrophy, Friedreich’s Ataxia, Inclusion Body Myositis, Spinal Muscular Atrophy

  • Human genes: SOD1, TDP43, DMD, FXN, APP, SMN
  • elegans counterparts: sod-1, tdp-1, dys-1, frh-1, apl-1, smn-1)

2. Complex neurological diseases:

  • Parkinson’s disease: modeling via transgenic expression of human genes alpha-synuclein (PARK1); *Genes involved: leucine-rich repeat kinase 2 (LRRK2, also known as PARK8); ubiquitin E3 ligase (PARK2); kinase PINK1 (PARK6); oncogene DJ-1 (PARK7); Elegans model also used to study neurotoxic and neuroprotective compounds.
  • Alzheimer’s disease and Tauopathies:
  • Human genes APP, PSEN1, PSEN2 and MAPT gene encoding tau
  • elegans apl-1, elegans presenilins-sel-12, hop-1, spe-4 ; elegans effectors of transgenic expression of tau: sut-1, sut-2.
  • Autism spectrum disorders: Human Shank family proteins, neuroligins, neurexins;

Elegans: shn-1, nlg-1, nrx-1.

3. Ciliary diseases:

Cystic kidney dieases: Polycystic kidney disease (PKD)

  • Human genes PKD1, PKD2.

Elegans: lov-1, pkd-2

Autosomal recessive polycystic kidney disease

  • Human Genes Tg737orpk, hetrotrimeric kinesin-II, KIF3A, KIF17
  • Elegans: osm-5, klp-11, klp-20, kap-1, osm-3;

Bardet-Biedl syndrome

  • human genes-BBS genes
  • Elegans: bbs genes


  • human genes-NPHP1, NPHP2, NPHP3, NPHP4
  • elegans genes: M28.7, T28D6.4, klc-1, klc-2, R13H4.1.

4. Laminopathic diseases:

Mutations in lamin (LMNA) cause: Emery-Dreifuss muscular dystrophy (EDMD)

  • human gene: Emerin
  • elegans: emr-1

LMNA-related congenital muscular dystrophy (L-CMD)

Limb-girdle muscular dystrophy and dilated cardiomyopathy

Neuropathic Charcot-Marie-Tooth disorder

Lipodystrophies: Mandicyloacral dysplasia, Dunnigan-type familial partial lipodystrophy

Systemic premature aging syndromes: Hutchison-Gilford progeria, Werner syndrome

5. Intestinal inflammatory diseases:

Ulcerative colitis

Crohn’s disease

Necrotizing enterocolitis (NEC)

Human gene: Toll-like Receptor 4 (TLR4)

6. Obesity

7. Prion diseases

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