Evaluation of carbonic anhydrase isozymes in disorders involving osteopetrosis and/or renal tubular acidosis

Sly, William S.; Sato, Seiji; Zhu, Xin Liang

doi:10.1016/0009-9120(91)80005-n

Cited by 35 publications

(15 citation statements)

References 48 publications

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“…The first form of osteopetrosis to be characterized was a relatively mild variant shown to be caused by a mutated CA2 (Sly et al , 1983; Fig 3). CAII is one of several isoenzymes of CA and in the osteoclasts it catalyses the reversible production of protons in the cytoplasm (Sly et al , 1991). These protons are subsequently transported to the resorption area by vacuolar proton pumps (Sly et al , 1983).…”

Section: Autosomal Recessive Osteopetrosis – Carbonic Anhydrase II (Cmentioning

confidence: 99%

“…Symptoms related to the osteopetrosis are susceptibility to fractures, dental malformations and visual and hearing problems, and these symptoms develop over the first 18 months of life. In some patients, the osteopetrotic phenotype is ameliorated as the patients grow older (Sly et al , 1991). As CAII is expressed in a wide range of tissues these patients display other clinical features.…”

Section: Autosomal Recessive Osteopetrosis – Carbonic Anhydrase II (Cmentioning

confidence: 99%

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Towards a better understanding and new therapeutics of osteopetrosis

2008

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Summary Lack of or dysfunction in osteoclasts result in osteopetrosis, a group of rare but often severe, genetic disorders affecting skeletal tissue. Increase in bone mass results in skeletal malformation and bone marrow failure that may be fatal. Many of the underlying defects have lately been characterized in humans and in animal models of the disease. In humans, these defects often involve mutations in genes expressing proteins involved in the acidification of the osteoclast resorption compartment, a process necessary for proper bone degradation. So far, the only cure for children with severe osteopetrosis is allogeneic hematopoietic stem cell (HSC) transplantation but without a matching donor this form of therapy is far from optimal. The characterization of the genetic defects opens up the possibility for gene replacement therapy as an alternative. Accordingly, HSC‐targeted gene therapy in a mouse model of infantile malignant osteopetrosis was recently shown to correct many aspects of the disease.

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Section: Autosomal Recessive Osteopetrosis – Carbonic Anhydrase II (Cmentioning

confidence: 99%

Section: Autosomal Recessive Osteopetrosis – Carbonic Anhydrase II (Cmentioning

confidence: 99%

Towards a better understanding and new therapeutics of osteopetrosis

2008

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“…Carbonic anhydrase II deficiency has been associated with osteopetrosis, renal tubular acidosis, and cerebral calcification. 27 Interestingly, the anti-CAII antibody can inhibit CA catalytic activity. Itoh and Reichlin 23 reported that the inhibition of enzyme activity occurred through F(ab) 2 of the anti-CA antibody because it was combined toward the active site of CA.…”

Section: Discussionmentioning

confidence: 99%

Potential for Differential Diagnosis of Autoimmune Pancreatitis and Pancreatic Cancer Using Carbonic Anhydrase II Antibody

Hosoda

Okawa-Takatsuji²,

Shinmura³

et al. 2008

Pancreas

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“…Clinical manifestations include short stature, cerebral calcifications, mental retardation, dental malocclusion and fractures. Usually, there are no haematological manifestations of the disease [98,99]. Recently, a patient with this form of osteopetrosis was diagnosed with primary pulmonary hypertension [99].…”

Section: Impaired Functioning Of the Osteoclastmentioning

confidence: 98%

Osteopetrosis: from Animal Models to Human Conditions

Perdu

Hul

Wesenbeeck

2008

Clinic Rev Bone Miner Metab

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The term ''osteopetrosis'' is applied to a group of disorders characterized by an increased bone density, due to an inadequate bone resorption. A considerable part of our current knowledge on osteoclast biology is based on the study of osteopetrotic animal models. The search for mutations in these animals has unveiled many molecular mechanisms underlying osteoclast differentiation and functioning. It also supplied new candidate genes for the identification of genes involved in the human variants of this disease. All osteopetrotic genes identified so far in humans have their animal counterpart. The reverse is not true. This can partially be explained by the fact that still more than 30% of all patients suffer from osteopetrosis with an unkown molecular defect. Therefore, the studies of the osteopetrotic animal models and the correlating human osteopetrotic forms were and are still very important for our knowledge of the aetiology, prognosis and treatment of this disease. This review focuses on osteopetrotic animal models as well as human osteopetrotic conditions and their impact on osteoclast biology, pathogenesis and treatment.

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Evaluation of carbonic anhydrase isozymes in disorders involving osteopetrosis and/or renal tubular acidosis

Cited by 35 publications

References 48 publications

Towards a better understanding and new therapeutics of osteopetrosis

Towards a better understanding and new therapeutics of osteopetrosis

Potential for Differential Diagnosis of Autoimmune Pancreatitis and Pancreatic Cancer Using Carbonic Anhydrase II Antibody

Osteopetrosis: from Animal Models to Human Conditions

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