Catecholamine metabolites affected by the copper-dependent enzyme dopamine-beta-hydroxylase provide sensitive biomarkers for early diagnosis of menkes disease and viral-mediated atp7a gene therapy

Advances in Pharmacology

Volumn 68, Issue , 2013, Pages 223-233

  Kaler, Stephen G ^a   Holmes, Courtney S ^b  

^a EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT   (United States)

^b NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE   (United States)

Author keywords

Adeno associated virus; Catechol ratios; Copper transport; Dopamine beta hydroxylase; Gene therapy; Menkes disease; Newborn screening

Indexed keywords

3,4 DIHYDROXYPHENYLETHYLENE GLYCOL; ADRENALIN; BIOLOGICAL MARKER; CATECHOL; CATECHOLAMINE; DIHYDROXYPHENYLACETIC ACID; DOPA; DOPAMINE; DOPAMINE BETA MONOOXYGENASE; MENKES PROTEIN; NORADRENALIN;

ADENO ASSOCIATED VIRUS; ARTICLE; BODY GROWTH; CATECHOLAMINE BLOOD LEVEL; CATECHOLAMINE SYNTHESIS; CEREBROSPINAL FLUID; HUMAN; MENKES SYNDROME; NONHUMAN; NORADRENALIN BRAIN LEVEL; PRIORITY JOURNAL; STATISTICAL SIGNIFICANCE; VIRAL GENE THERAPY;

ADENO-ASSOCIATED VIRUS; CATECHOL RATIOS; COPPER TRANSPORT; DOPAMINE-BETA-HYDROXYLASE; GENE THERAPY; MENKES DISEASE; NEWBORN SCREENING;

ADENOSINE TRIPHOSPHATASES; ANIMALS; BIOLOGICAL MARKERS; CATECHOLAMINES; CATECHOLS; CATION TRANSPORT PROTEINS; COPPER; DOPAMINE BETA-HYDROXYLASE; EARLY DIAGNOSIS; GENETIC THERAPY; HUMANS; MENKES KINKY HAIR SYNDROME;

EID: 84884310691     PISSN: 10543589     EISSN: 15578925     Source Type: Book Series    
DOI: 10.1016/B978-0-12-411512-5.00011-7     Document Type: Chapter

References (27)

1. Biaggioni I., Robertson D. Endogenous restoration of noradrenaline by precursor therapy in dopamine-beta-hydroxylase deficiency. Lancet 1987, 2(8569):1170-1172.
2. Chelly J., Tümer Z., Tønnesen T., Petterson A., Ishikawa-Brush Y., Tommerup N., et al. Isolation of a candidate gene for Menkes disease that encodes a potential heavy metal binding protein. Nature Genetics 1993, 3:14-19.
3. Christodoulou J., Danks D.M., Sarkar B., Baerlocher K.E., Casey R., Horn N., et al. Early treatment of Menkes disease with parenteral copper-histidine: Long-term follow-up of four treated patients. American Journal of Medical Genetics 1998, 76(2):154-164.
4. Das S., Levinson B., Vulpe C., Whitney S., Gitschier J., Packman S. Similar splicing mutations of the Menkes/mottled copper-transporting ATPase gene in occipital horn syndrome and the blotchy mouse. American Journal of Human Genetics 1995, 56(3):570-576.
5. Donsante A., Johnson P., Jansen L.A., Kaler S.G. Somatic mosaicism in Menkes disease suggests choroid plexus-mediated copper transport to the developing brain. American Journal of Medical Genetics. Part A 2010, 152A(10):2529-2534.
6. Donsante A., Sullivan P., Goldstein D.S., Brinster L.R., Kaler S.G. Systemic L-threo-dihydroxyphenylserine improves neurochemical abnormalities in a mouse model of Menkes disease. Annals of Neurology 2013, 73(2):259-265.
7. Donsante A., Yi L., Zerfas P.M., Brinster L., Sullivan P., Goldstein D.S., et al. ATP7A gene addition to the choroid plexus results in long-term rescue of the lethal copper transport defect in a Menkes disease mouse model. Molecular Therapy 2011, 19(12):2114-2123.
8. Goldstein D.S., Holmes C.S., Kaler S.G. Relative efficiencies of plasma catechol levels and ratios for neonatal diagnosis of Menkes disease. Neurochemical Research 2009, 34:1464-1468.
9. Holmes C., Eisenhofer G., Goldstein D.S. Improved assay for plasma dihydroxyphenylacetic acid and other catechols using high-performance liquid chromatography with electrochemical detection. Journal of Chromatography. B, Biomedical Applications 1994, 653(2):131-138.
10. Kaler S.G. Menkes disease. Advances in pediatrics 1994, Vol. 41:263-304. C.V. Mosby, St. Louis.
11. Kaler S.G. Menkes disease mutations and response to early copper histidine treatment. Nature Genetics 1996, 13:21-22.
12. Kaler S.G. The neurology of ATP7A copper transporter disease: Emerging concepts and future trends. Nature Reviews. Neurology 2011, 7:15-29.
13. Kaler S.G., Gahl W.A., Berry S.A., Holmes C.S., Goldstein D.S. Predictive value of plasma catecholamine levels in neonatal detection of Menkes disease. Journal of Inherited Metabolic Disease 1993, 16:907-908.
14. Kaler S.G., Gallo L.K., Proud V.K., Percy A.K., Mark Y., Segal N.A., et al. Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus. Nature Genetics 1994, 8:195-202.
15. Kaler S.G., Goldstein D.S., Holmes C., Salerno J.A., Gahl W.A. Plasma and cerebrospinal fluid neurochemical pattern in Menkes disease. Annals of Neurology 1993, 33:171-175.
16. Kaler S.G., Holmes C.S., Goldstein D.S., Tang J., Godwin S.C., Donsante A., et al. Neonatal diagnosis and treatment of Menkes disease. The New England Journal of Medicine 2008, 358:605-614.
17. Kaler S.G., Westman J.A., Bernes S.M., Elsayed A.M., Bowe C.M., Freeman K.L.B., et al. Gastrointestinal hemorrhage associated with gastric polyps in Menkes disease. Journal of Pediatrics 1993, 122:93-99.
18. Liu P.-C., McAndrew P.E., Kaler S.G. Rapid and robust screening of the Menkes disease/occipital horn syndrome gene. Genetic Testing 2002, 6(4):255-260.
19. Mercer J.F.B., Livingston J., Hall B., Paynter J.A., Begy C., Chandrasekharappa S., et al. Isolation of a partial candidate gene for Menkes disease by positional cloning. Nature Genetics 1993, 3:20-25.
20. Møller L., Hicks J.D., Holmes C.S., Goldstein D.S., Brendl C., Huppke P., et al. Diagnosis of copper transport disorders. Current Protocols in Human Genetics 2011, Chapter 17; Unit 17.9. 10.1002/0471142905.hg1709s70.
21. Robertson D., Haile V., Perry S.E., Robertson R.M., Phillips J.A., Biaggioni I. Dopamine beta-hydroxylase deficiency. A genetic disorder of cardiovascular regulation. Hypertension 1991, 18(1):1-8.
22. Schoonveld C., Donsante A., Del Gaudio D., Waggoner D., Das S., Kaler S. Prenatal diagnostic conundrum involving a novel ATP7A duplication. Clinical Genetics 2013, 84(1):97-98.
23. Senard J.M., Rouet P. Dopamine-beta-hydroxylase deficiency. Orphanet Journal of Rare Diseases 2006, 1:7.
24. Sheela S.R., Manoj L., Liu P.-C., Lem K.E., Kaler S.G. Copper replacement treatment for symptomatic Menkes disease: Ethical considerations. Clinical Genetics 2005, 68:278-283.
25. Tang J., Robertson S.P., Lem K.E., Godwin S.C., Kaler S.G. Functional copper transport explains neurologic sparing in occipital horn syndrome. Genetics in Medicine 2006, 8:711-718.
26. Tümer Z. An overview and update of ATP7A mutations leading to Menkes disease and occipital horn syndrome. Human Mutation 2013, 34:417-429.
27. Vulpe C., Levinson B., Whitney S., Packman S., Gitschier J. Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper-transporting ATPase. Nature Genetics 1993, 3:7-13. (Erratum, Nature Genetics (1993) 3, 273).