Investigating the role connective tissue fibroblasts play in the altered muscle anatomy associated with the limb abnormality, Radial Dysplasia

George R.F. Murphy, Eleanor Feneck, James Paget, Branavan Sivakumar, Gill Smith, Malcolm P.O. Logan*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

Abstract

Radial dysplasia (RD) is a congenital upper limb birth defect that presents with changes to the upper limb anatomy, including a shortened or absent radius, bowed ulna, thumb malformations, a radially deviated hand and a range of muscle and tendon malformations, including absent or abnormally shaped muscle bundles. Current treatments to address wrist instability caused by a shortened or absent radius frequently require an initial soft tissue distraction intervention followed by a wrist stabilisation procedure. Following these surgical interventions, however, recurrence of the wrist deviation remains a common, long-term problem following treatment. The impact of the abnormal soft connective tissue (muscle and tendon) anatomy on the clinical presentation of RD and the complications following surgery are not understood. To address this, we have examined the muscle, fascia and the fascial irregular connective tissue (ICT) fibroblasts found within soft connective tissues, from RD patients. We show that ICT fibroblasts isolated from RD patients are functionally abnormal when compared to the same cells isolated from control patients and secrete a relatively disordered extracellular matrix (ECM). Furthermore, we show that ICT fibroblast dysfunction is a unifying feature found in RD patients, even when the RD clinical presentation is caused by distinct genetic syndromes.

Original languageEnglish
Pages (from-to)217-230
Number of pages14
JournalJournal of Anatomy
Volume245
Issue number2
DOIs
Publication statusPublished - Aug 2024

Keywords

  • connective tissue fibroblasts
  • extracellular matrix
  • limb defects
  • muscle bundle
  • radial dysplasia

Fingerprint

Dive into the research topics of 'Investigating the role connective tissue fibroblasts play in the altered muscle anatomy associated with the limb abnormality, Radial Dysplasia'. Together they form a unique fingerprint.

Cite this