Poster Presentation 47th Lorne Genome Conference 2026

Differentiation of IPS cells into fibroblasts to validate gene targets for Dupuytren’s Contracture (133181)

Linley C Worth 1 2 3 , Robert Pearce 2 4 , Aoife O'Brien 2 5 , Lucy Barrett 2 , Emma Kuzminski 1 , Mitchell Hedges 1 , Catherine Forbes 1 , Nicole Shaw 1 , Vanessa S Fear 1 , Mark W Fear 2 , Andrew W Stevenson 2 3 , Muhammad Ahmed 3
  1. The Kids Research Institute Australia, Nedlands, Western Australia, Australia
  2. Burn Injury Research Unit, Crawley, Western Australia, Australia
  3. University of Western Australia, Crawley, WESTERN AUSTRALIA, Australia
  4. The University of Notre Dame Australia, Fremantle, Western Australia, Australia
  5. Royal College of Surgeons in Ireland, Dublin, Ireland

Dupuytren’s contracture (DD) is a painful fibroproliferative disease of the palmar fascia in the hand, and has a strong genetic risk component although the exact mutation/s are unknown. Reducing movement of the fourth and fifth fingers later in life as they become painful to straighten with worsening fibrosis, DD can have a large impact on quality of life with a prevalence of 22% in people above the age of 60 years in Australia. The current treatment options for DD include physiotherapy and surgical intervention which only offer a temporary respite. This study tested the significance of a potential SNV for DD while developing a novel fibroblast differentiation protocol with the hope to take a step towards better treatment options for patients. Whole exome sequencing of a Western Australian family with DD  identified a series of single nucleotide variants (SNVs) of interest. To validate one of the SNVs as a genetic cause of DD, CRISPR Cas9 was used to mutate a heterozygous SNV seen in the LRSAM1 gene of IPS cells. The mutated IPS cells underwent single cell cloning to get clonal populations with the SNV or wildtype genotype validated by targeted amplicon sequencing before differentiation into fibroblasts using a novel protocol. The differentiated cells were then compared phenotypically to cells from patients with DD, using transcriptomics to validate whether this SNV in LRSAM1 was pathogenetic. Further testing was done through scar in a jar assays, immunocytochemistry, and immunoblotting, demonstrating that the SNV clones exhibit a more fibrotic phenotype then their wildtype pairs. By identifying and validating causative SNVs for DD, more effective treatment options can be designed resulting in a better quality of life.

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  2. Hu F. Z. et al., Clinical Genetics, 2005. 68, 424-429