Case Report: Molecular Characterisation of Adipose-Tissue derived cells from a Patient with ROHHAD Syndrome

Kalina M Biernacka, Dinesh Giri, K Hawton, Francisca H I D Segers, Claire M Perks*, Julian P H Shield

*Corresponding author for this work

Research output: Contribution to journalArticle (Academic Journal)peer-review


There have been over 100 cases of Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD) syndrome reported, but there is currently no curative treatment for children with this condition. We aimed to better characterise adipose cells from a child with ROHHAD syndrome. We isolated pre-adipocytes from a 4 year-old female patient with ROHHAD syndrome and assessed proliferation rate of these cells. We evaluated levels of DLP-Pref-1(pre-adipocyte marker) using western blotting, and concentrations of interleukin-6(IL-6) using ELISA. We performed next-generation sequencing (NGS) and bioinformatic analyses on these cells compared to tissue from an age/sex-matched control. The two most up-/down-regulated genes were validated using QPCR. We successfully isolated pre-adipocytes from a fat biopsy, by confirming the presence of Pref-1 and differentiated them to mature adipocytes. Interleukin 6, (Il-6) levels were 5.6-fold higher in ROHHAD cells compared to a control age/sex-matched biopsy. NGS revealed 25,703 differentially expressed genes (DEGs) from ROHHAD cells versus control of which 2237 genes were significantly altered. The 20 most significantly up/down-regulated genes were selected for discussion. This paper describes the first transcriptomic analysis of adipose cells from a child with ROHHAD versus normal control adipose tissue as a first step in identifying targetable pathways/mechanisms underlying this condition with novel therapeutic interventions.
Original languageEnglish
Article number1128216
JournalFrontiers in Pediatrics
Publication statusPublished - 30 Jun 2023

Bibliographical note

Funding Information:
This research was funded by NIHR Applied Research Collaboration (ARC) West and NIHR Bristol Biomedical Research Centre (BRC), Nutrition theme. We also wish to acknowledge the family of the patient who provided consent to allow us a biopsy sample and produce this paper. The work was also supported by Cancer Research UK: The Integrative Cancer Epidemiology Programme for improved causal evidence and enhanced prediction of cancer risk and survival: C18281/A29019. Acknowledgments

Publisher Copyright:
2023 Biernacka, Giri, Hawton, Segers, Perks and Hamilton-Shield.

Structured keywords

  • ICEP


  • adipocytes
  • ROHHAD syndrome
  • RNA sequencing
  • immune modulation
  • interleukin-6
  • case report


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