Osteoclast morphology in autosomal recessive malignant osteopetrosis due to a TCIRG1 gene mutation

Elisabeth Brude, Thomas Stallmach, Karin Peier, Andrea Superti-Furga, Paolo Vezzoni

Research output: Contribution to journalArticle

Abstract

Bone biopsies were performed before and 7 weeks after transplantation of HLA-compatible bone marrow from the sister of a 3-month-old male infant with malignant autosomal recessive osteopetrosis due to a mutation in the TCIRG1 (ATP6i) gene. The first biopsy showed broad, immature bony trabeculae and no medullary hematopoiesis. Only few osteoclasts were present and electron microscopy showed absence of ruffled borders. The post transplant biopsy revealed donor osteoclasts with ruffled borders and intracytoplasmic mineral crystals as proof of active bone resorption that had not yet been detectable radiographically. Osteopetrosis is a genetically heterogenous disease. Definition at the DNA-level will enable comparison of treatment strategies and prenatal diagnosis. As shown in this patient, the autosomal recessive form caused by a TCIRGI gene mutation may be amenable to bone marrow transplantation. Activity of donor osteoclasts can be demonstrated morphologically on biopsy, before bone remodeling becomes evident radiologically.

Original languageEnglish
Pages (from-to)3-9
Number of pages7
JournalPediatric Pathology and Molecular Medicine
Volume22
Issue number1
DOIs
Publication statusPublished - Jan 2003

Fingerprint

Osteoclasts
Biopsy
Mutation
Genes
Tissue Donors
Osteopetrosis
Bone Remodeling
Hematopoiesis
Bone Resorption
Prenatal Diagnosis
Bone Marrow Transplantation
Minerals
Siblings
Electron Microscopy
Transplantation
Bone Marrow
Transplants
Bone and Bones
Osteopetrosis lethal
DNA

Keywords

  • ATP6i gene
  • Bone marrow transplantation
  • Osteoclast
  • Osteopetrosis
  • TCIRGI gene

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Pediatrics, Perinatology, and Child Health

Cite this

Osteoclast morphology in autosomal recessive malignant osteopetrosis due to a TCIRG1 gene mutation. / Brude, Elisabeth; Stallmach, Thomas; Peier, Karin; Superti-Furga, Andrea; Vezzoni, Paolo.

In: Pediatric Pathology and Molecular Medicine, Vol. 22, No. 1, 01.2003, p. 3-9.

Research output: Contribution to journalArticle

Brude, Elisabeth ; Stallmach, Thomas ; Peier, Karin ; Superti-Furga, Andrea ; Vezzoni, Paolo. / Osteoclast morphology in autosomal recessive malignant osteopetrosis due to a TCIRG1 gene mutation. In: Pediatric Pathology and Molecular Medicine. 2003 ; Vol. 22, No. 1. pp. 3-9.
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