The Malfunctioning of Copper Transport in Wilson and Menkes Diseases

Bibudhendra Sarkar

The Research Institute, The Hospital for Sick Children, Toronto and The Department of Biochemistry, University of Toronto, 555 University Avenue, Toronto, Ontario M5G 1X8, Canada <[email protected]>

1 INTRODUCTION 208 1.1 Biological Transport of Copper 208

2 CLINICAL AND BIOCHEMICAL FEATURES OF COPPER TRANSPORT DISORDERS 210

2.1 Wilson Disease 210

2.2 Menkes Disease 211

3 GENES IDENTIFIED IN COPPER TRANSPORT DISORDERS 212

3.1 Wilson Disease Gene 212

3.2 Menkes Disease Gene 212

4 STRUCTURE AND FUNCTION OF COPPER-TRANSPORTING ATPases 213

4.1 Wilson Disease ATPase (ATP7B) 213

4.1.1 Structural Studies of ATP7B 213

4.1.2 Functional Studies of ATP7B 214

4.2 Menkes Disease ATPase (ATP7A) 216

4.2.1 Structural Studies of ATP7A 216

4.2.2 Functional Studies of ATP7A 217

5 TREATMENT OF COPPER TRANSPORT DISORDERS 217 5.1 Treatment of Wilson Disease 217

5.1.1 BAL (2,3-Dimercaptopropanol) 217

5.1.2 d-Penicillamine 218

5.1.3 Trientine 218

Metal Ions in Life Sciences, Volume 1 Edited by Astrid Sigel, Helmut Sigel and Roland K. O. Sigel © 2006 John Wiley & Sons, Ltd

5.1.4 Zinc

219 219 219 219 221 221 221 221

5.1.5 Tetrathiomolybdate 5.2 Treatment of Menkes Disease

5.2.1 Copper-Histidine

6 CONCLUSIONS

ACKNOWLEDGMENTS

ABBREVIATIONS

REFERENCES

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