Rare Turner syndrome and lupus coexistence with insights from DNA methylation patterns

Kavrul Kayaalp G., Casares-Marfil D., ŞAHİN S., KASAPÇOPUR Ö., Sözeri B., Aktay Ayaz N., ...Daha Fazla

Clinical Immunology, cilt.266, 2024 (SCI-Expanded, Scopus) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 266
  • Basım Tarihi: 2024
  • Doi Numarası: 10.1016/j.clim.2024.110310
  • Dergi Adı: Clinical Immunology
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, BIOSIS, CAB Abstracts, Chemical Abstracts Core, EMBASE, MEDLINE, Veterinary Science Database
  • Anahtar Kelimeler: Epigenetics, Lupus, Methylation, Turner syndrome, X-chromosome
  • İstanbul Üniversitesi-Cerrahpaşa Adresli: Evet

Özet

Systemic lupus erythematosus (SLE or lupus) is a complex autoimmune disease that can affect multiple organs. While the exact disease etiology remains incompletely understood, there is a suggested influence of X-chromosome dosage in the pathogenesis of lupus. Here, we report a rare case of a female patient diagnosed with mosaic Turner syndrome and subsequently presenting with juvenile-onset SLE. DNA methylation patterns were analyzed in this patient and compared with age-matched female SLE controls, revealing higher methylation levels in interferon-regulated genes previously shown to be hypomethylated in SLE. These data provide a potential link between a gene-dose effect from the X-chromosome and the lupus-defining epigenotype. We hypothesize that the attenuated demethylation in interferon-regulated genes might provide a protective effect explaining the rarity of SLE in Turner syndrome.