Recent progress in the molecular genetics of sclerosing bone dysplasias

Hul, Wim

doi:10.1080/pdp.22.1.11.22

Cited by 3 publications

(2 citation statements)

References 33 publications

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“…The HBM phenotype is notable for a very high bone density without any clinical implications (62). Identification and subsequent characterization of this gene(s) will reveal whether ADOI and HBM are allelic and caused by different mutations in the same gene or whether two genes from the same chromosomal region are involved in these two conditions (63). Clinically, a small number of ADOI patients have symptoms of bone pain but without evidence of increased fracture seen in other types of osteopetrosis (64).…”

Section: Autosomal Dominant Op Type I (Adoi)mentioning

confidence: 99%

“…Clinically, a small number of ADOI patients have symptoms of bone pain but without evidence of increased fracture seen in other types of osteopetrosis (64). Radiologically, ADOI patients show generalized diffuse osteosclerosis notably of the skull, spine, and long bones (63). Histology shows persistence of calicified cartilage in early life, which improves with age.…”

Section: Autosomal Dominant Op Type I (Adoi)mentioning

confidence: 99%

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Human osteopetroses and the osteoclast V-H+-ATPase acidification system

Ogbureke

Zhao

2005

Front Biosci

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Osteopetroses are a heterogeneous group of human genetic diseases characterized by generalized increase in bone density due either to a decreased osteoclast population, defect in osteoclast function, or both. Current knowledge of the pathogenesis suggests defects that may be either intrinsic to osteoclast-monocyte lineage or extrinsic to the mesenchymal cells that support osteoblast ontogeny and activation. Four clinically distinct forms of human osteopetroses currently recognized are the infantile malignant autosomal recessive form, the intermediate autosomal recessive form, the adult benign autosomal dominant osteopetrosis type I, and the autosomal dominant osteopetrosis type II. Propensity to fracture is high in all types of osteopetrosis, and other characteristic clinical problems include hematologic and metabolic abnormalities, infections of affected bone, and neurologic sequela. Among the infantile malignant clinical forms 50-60% of patients present with defects in the OC116-KDa (also refers to ATP6i, TCIRGI, a3) subunit of the osteoclast vacuolar H+-ATPase (V-H+-ATPase) proton pump. Approaches that have been applied to the treatment of osteopetrosis include those aimed at stimulating host osteoclasts. These approaches however have met with little success, and it would appear that the future for the successful treatment of osteopetrosis lies with bone marrow transplantation. Various animal models mimicking some of the clinical subtypes of osteopetrosis have been generated in efforts to elicit further understanding of the pathogenesis. This review is an update on the various phenotypic presentations of human osteopetroses alongside their known animal models. Further studies on these animal models will not only expand our basic understanding of the molecular mechanisms of osteopetroses, but will also aid our ability to develop therapeutic means of intervention in diseases involving osteopetroses.

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Section: Autosomal Dominant Op Type I (Adoi)mentioning

confidence: 99%

Section: Autosomal Dominant Op Type I (Adoi)mentioning

confidence: 99%

Human osteopetroses and the osteoclast V-H+-ATPase acidification system

Ogbureke

Zhao

2005

Front Biosci

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Hyperphosphatasia with massive osteoectasia: a 45-year follow-up

McCarthy

Sack²

2007

Skeletal Radiol

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Hyperphosphatasia is a heterogeneous group of disorders characterized by a generalized skeletal disease and increased alkaline phosphatase. Increased bone remodeling secondary to increased osteoclastic activity appears to be the underlying feature of these disorders. These disorders include juvenile Paget's disease, expansile skeletal hyperphosphatasia, hyperostosis generalisata with striations, and Camurati-Engelmann's disease, type II. The genetic mutations for a number of these disorders have been identified. We present a patient with congenital hyperphosphatasia whose clinical and radiographic features were somewhat different from these other well-defined syndromes. The patient was followed for 45 years until his death of at age 49. The patient had massive osteoectasia with dense striations involving the entire shaft of his long bones. His spine, pelvis, short tubular bones, and calvarium were also involved. He suffered hearing loss and optic atrophy, but he kept his teeth throughout his life. He was tall with a marfanoid habitus, and he had hypogonadism and hypothyroidism. There was no evidence of mental retardation, and other laboratory studies where within normal limits. This case, as well as other manifestations of hyperphosphatasia, attests to the complexity of the bone remodeling system.

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Osteoclast Activity: Bone Resorption, Polarization, Acidification, Proton Pumps, and Chloride Channels

Chen

2020

Encyclopedia of Bone Biology

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Recent progress in the molecular genetics of sclerosing bone dysplasias

Cited by 3 publications

References 33 publications

Human osteopetroses and the osteoclast V-H+-ATPase acidification system

Human osteopetroses and the osteoclast V-H+-ATPase acidification system

Hyperphosphatasia with massive osteoectasia: a 45-year follow-up

Osteoclast Activity: Bone Resorption, Polarization, Acidification, Proton Pumps, and Chloride Channels

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