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  • Sofou, KalliopiGothenburg University,Göteborgs universitet,Institutionen för kliniska vetenskaper, Avdelningen för pediatrik,Institute of Clinical Sciences, Department of Pediatrics (author)

Bi-allelic VPS16 variants limit HOPS/CORVET levels and cause a mucopolysaccharidosis-like disease.

  • Article/chapterEnglish2021

Publisher, publication year, extent ...

  • 2021-05-03
  • EMBO,2021

Numbers

  • LIBRIS-ID:oai:gup.ub.gu.se/304347
  • https://gup.ub.gu.se/publication/304347URI
  • https://doi.org/10.15252/emmm.202013376DOI

Supplementary language notes

  • Language:English

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  • Subject category:ref swepub-contenttype
  • Subject category:art swepub-publicationtype

Notes

  • Lysosomal storage diseases, including mucopolysaccharidoses, result from genetic defects that impair lysosomal catabolism. Here, we describe two patients from two independent families presenting with progressive psychomotor regression, delayed myelination, brain atrophy, neutropenia, skeletal abnormalities, and mucopolysaccharidosis-like dysmorphic features. Both patients were homozygous for the same intronic variant in VPS16, a gene encoding a subunit of the HOPS and CORVET complexes. The variant impaired normal mRNA splicing and led to an ~85% reduction in VPS16 protein levels in patient-derived fibroblasts. Levels of other HOPS/CORVET subunits, including VPS33A, were similarly reduced, but restored upon re-expression of VPS16. Patient-derived fibroblasts showed defects in the uptake and endosomal trafficking of transferrin as well as accumulation of autophagosomes and lysosomal compartments. Re-expression of VPS16 rescued the cellular phenotypes. Zebrafish with disrupted vps16 expression showed impaired development, reduced myelination, and a similar accumulation of lysosomes and autophagosomes in the brain, particularly in glia cells. This disorder resembles previously reported patients with mutations in VPS33A, thus expanding the family of mucopolysaccharidosis-like diseases that result from mutations in HOPS/CORVET subunits.

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  • Meier, Kolja (author)
  • Sanderson, Leslie E (author)
  • Kaminski, DeboraGothenburg University,Göteborgs universitet,Wallenberg Centre for Molecular and Translational Medicine,Institutionen för biomedicin, avdelningen för laboratoriemedicin,Department of Laboratory Medicine(Swepub:gu)xkamde (author)
  • Montoliu-Gaya, LaiaGothenburg University,Göteborgs universitet,Wallenberg Centre for Molecular and Translational Medicine,Institutionen för biomedicin, avdelningen för laboratoriemedicin,Department of Laboratory Medicine(Swepub:gu)xmonla (author)
  • Samuelsson, Emma (author)
  • Blomqvist, Maria K.,1975Gothenburg University,Göteborgs universitet,Institutionen för biomedicin, avdelningen för laboratoriemedicin,Department of Laboratory Medicine(Swepub:gu)xbmarq (author)
  • Agholme, LottaGothenburg University,Göteborgs universitet,Institutionen för neurovetenskap och fysiologi, sektionen för psykiatri och neurokemi,Institute of Neuroscience and Physiology, Department of Psychiatry and Neurochemistry(Swepub:gu)xaghlo (author)
  • Gärtner, Jutta (author)
  • Mühlhausen, Chris (author)
  • Darin, Niklas,1964Gothenburg University,Göteborgs universitet,Institutionen för kliniska vetenskaper, Avdelningen för pediatrik,Institute of Clinical Sciences, Department of Pediatrics(Swepub:gu)xdarin (author)
  • Barakat, Tahsin Stefan (author)
  • Schlotawa, Lars (author)
  • van Ham, Tjakko (author)
  • Asin-Cayuela, JorgeGothenburg University,Göteborgs universitet,Institutionen för biomedicin, avdelningen för laboratoriemedicin,Department of Laboratory Medicine(Swepub:gu)xcayjo (author)
  • Sterky, Fredrik HGothenburg University,Göteborgs universitet,Institutionen för biomedicin, avdelningen för laboratoriemedicin,Wallenberg Centre for Molecular and Translational Medicine,Department of Laboratory Medicine(Swepub:gu)xsterf (author)
  • Göteborgs universitetInstitutionen för kliniska vetenskaper, Avdelningen för pediatrik (creator_code:org_t)

Related titles

  • In:EMBO molecular medicine: EMBO131757-46841757-4676

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