Nature Communications (Sep 2020)

Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology

  • Sahar Elouej,
  • Karim Harhouri,
  • Morgane Le Mao,
  • Genevieve Baujat,
  • Sheela Nampoothiri,
  • Hϋlya Kayserili,
  • Nihal Al Menabawy,
  • Laila Selim,
  • Arianne Llamos Paneque,
  • Christian Kubisch,
  • Davor Lessel,
  • Robert Rubinsztajn,
  • Chayki Charar,
  • Catherine Bartoli,
  • Coraline Airault,
  • Jean-François Deleuze,
  • Agnes Rötig,
  • Peter Bauer,
  • Catarina Pereira,
  • Abigail Loh,
  • Nathalie Escande-Beillard,
  • Antoine Muchir,
  • Lisa Martino,
  • Yosef Gruenbaum,
  • Song-Hua Lee,
  • Philippe Manivet,
  • Guy Lenaers,
  • Bruno Reversade,
  • Nicolas Lévy,
  • Annachiara De Sandre-Giovannoli

DOI
https://doi.org/10.1038/s41467-020-18146-9
Journal volume & issue
Vol. 11, no. 1
pp. 1 – 15

Abstract

Read online

Mandibuloacral dysplasias (MADs) are rare progeroid syndromes characterized by nuclear morphological and functional abnormalities. Here the authors report that loss of mitochondrial membrane protein MTX2 causes a progeroid MAD sharing clinical features with lamin-associated progeroid syndromes.