Osteopetrosis and Its Relevance for the Discovery of New Functions Associated with the Skeleton
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 blindn...
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| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
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Wiley
2015-01-01
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| Series: | International Journal of Endocrinology |
| Online Access: | http://dx.doi.org/10.1155/2015/372156 |
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| author | Amélie E. Coudert Marie-Christine de Vernejoul Maurizio Muraca Andrea Del Fattore |
| author_facet | Amélie E. Coudert Marie-Christine de Vernejoul Maurizio Muraca Andrea Del Fattore |
| author_sort | Amélie E. Coudert |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-c2fc8bb035374f9f89dd214fcf3db17d |
| institution | Kabale University |
| issn | 1687-8337 1687-8345 |
| language | English |
| publishDate | 2015-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | International Journal of Endocrinology |
| spelling | doaj-art-c2fc8bb035374f9f89dd214fcf3db17d2025-02-03T05:58:46ZengWileyInternational Journal of Endocrinology1687-83371687-83452015-01-01201510.1155/2015/372156372156Osteopetrosis and Its Relevance for the Discovery of New Functions Associated with the SkeletonAmélie E. Coudert0Marie-Christine de Vernejoul1Maurizio Muraca2Andrea Del Fattore3Institut National de la Santé et de la Recherche Médicale U1138, Centre de Recherche des Cordeliers, Paris, FranceInstitut National de la Santé et de la Recherche Médicale U1132, Hôpital Lariboisière, Paris, FranceRegenerative Medicine Unit, Bambino Gesù Children’s Hospital, IRCCS, Piazza Sant’Onofrio 4, 00165 Rome, ItalyRegenerative Medicine Unit, Bambino Gesù Children’s Hospital, IRCCS, Piazza Sant’Onofrio 4, 00165 Rome, ItalyOsteopetrosis 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.http://dx.doi.org/10.1155/2015/372156 |
| spellingShingle | Amélie E. Coudert Marie-Christine de Vernejoul Maurizio Muraca Andrea Del Fattore Osteopetrosis and Its Relevance for the Discovery of New Functions Associated with the Skeleton International Journal of Endocrinology |
| title | Osteopetrosis and Its Relevance for the Discovery of New Functions Associated with the Skeleton |
| title_full | Osteopetrosis and Its Relevance for the Discovery of New Functions Associated with the Skeleton |
| title_fullStr | Osteopetrosis and Its Relevance for the Discovery of New Functions Associated with the Skeleton |
| title_full_unstemmed | Osteopetrosis and Its Relevance for the Discovery of New Functions Associated with the Skeleton |
| title_short | Osteopetrosis and Its Relevance for the Discovery of New Functions Associated with the Skeleton |
| title_sort | osteopetrosis and its relevance for the discovery of new functions associated with the skeleton |
| url | http://dx.doi.org/10.1155/2015/372156 |
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