Osteopetrosis and its relevance for the discovery of new functions associated with the skeleton

Amélie E. Coudert, Marie Christine De Vernejoul, Maurizio Muraca, Andrea Del Fattore

Research output: Contribution to journalArticle

20 Citations (Scopus)

Abstract

Osteopetrosis is a rare genetic disorder characterized by an increase of bone mass due to defective osteoclast function. Patients typically displayed spontaneous fractures, anemia, and in the most severe forms hepatosplenomegaly and compression of cranial facial nerves leading to deafness and blindness. Osteopetrosis comprises a heterogeneous group of diseases as several forms are known with different models of inheritance and severity from asymptomatic to lethal. This review summarizes the genetic and clinical features of osteopetrosis, emphasizing how recent studies of this disease have contributed to understanding the central role of the skeleton in the whole body physiology. In particular, the interplay of bone with the stomach, insulin metabolism, male fertility, the immune system, bone marrow, and fat is described.

Original languageEnglish
Article number372156
JournalInternational Journal of Endocrinology
Volume2015
DOIs
Publication statusPublished - 2015

Fingerprint

Osteopetrosis
Skeleton
Deaf-Blind Disorders
Bone and Bones
Spontaneous Fractures
Inborn Genetic Diseases
Cranial Nerves
Facial Nerve
Osteoclasts
Fertility
Anemia
Immune System
Stomach
Bone Marrow
Fats
Insulin

ASJC Scopus subject areas

  • Endocrine and Autonomic Systems
  • Endocrinology
  • Endocrinology, Diabetes and Metabolism

Cite this

Osteopetrosis and its relevance for the discovery of new functions associated with the skeleton. / Coudert, Amélie E.; De Vernejoul, Marie Christine; Muraca, Maurizio; Del Fattore, Andrea.

In: International Journal of Endocrinology, Vol. 2015, 372156, 2015.

Research output: Contribution to journalArticle

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