Analysis of ferritin genes in Parkinson disease

Clinical Chemistry and Laboratory Medicine

Volumn 45, Issue 11, 2007, Pages 1450-1456

  Foglieni, Barbara ^a   Ferrari, Francesca ^a   Goldwurm, Stefano ^b   Santambrogio, Paolo ^a   Castiglioni, Emanuela ^a   Sessa, Maria ^a   Antonietta Volontè, Maria ^a   Lalli, Stefania ^a   Galli, Carlo ^c   Wang, Xin Sheng ^d   Connor, James ^d   Sironi, Francesca ^b,e   Canesi, Margherita ^b   Biasiotto, Giorgio ^f   Pezzoli, Gianni ^b   Levi, Sonia ^a,g   Ferrari, Maurizio ^a,g,h   Arosio, Paolo ^f   Cremonesi, Laura ^a,h  

^a SAN RAFFAELE HOSPITAL   (Italy)

^b PARKINSON INSTITUTE   (Italy)

^c OSPEDALE NIGUARDA CA GRANDA   (Italy)

^d PENN STATE MILTON S HERSHEY MEDICAL CENTER   (United States)

^e FONDAZIONE IRCCS CA GRANDA OSPEDALE MAGGIORE POLICLINICO   (Italy)

^f UNIVERSITY OF BRESCIA   (Italy)

^g VITA SALUTE SAN RAFFAELE UNIVERSITY   (Italy)

^h Diagnostica e Ricerca San Raffaele SpA   (Italy)

Author keywords

Anemia; Denaturing high performance liquid chromatography (DHPLC); Ferritin; Parkinson disease

Indexed keywords

FERRITIN; HISTONE;

ADULT; AGED; ANEMIA; ARTICLE; COHORT ANALYSIS; CONTROLLED STUDY; DAUGHTER; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; DISEASE ASSOCIATION; DNA FINGERPRINTING; FEMALE; GENE MUTATION; GENETIC ANALYSIS; GENETIC CODE; GENETIC POLYMORPHISM; HUMAN; MALE; NEUROPATHY; PARKINSON DISEASE; PRIORITY JOURNAL; SUBSTITUTION REACTION;

ADULT; AGED; BASE SEQUENCE; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; DNA PRIMERS; FERRITINS; HUMANS; IMMUNOHISTOCHEMISTRY; MIDDLE AGED; MUTAGENESIS; PARKINSON DISEASE; POLYMERASE CHAIN REACTION; POLYMORPHISM, GENETIC;

EID: 35648946448     PISSN: 14346621     EISSN: 14374331     Source Type: Journal    
DOI: 10.1515/CCLM.2007.307     Document Type: Article

References (32)

1. Zecca L, Youdim MB, Riederer P, Connor JR, Crichton RR. Iron, brain ageing and neurodegenerative disorders. Nat Rev Neurosci 2004;5:863-73.
2. Berg D, Hochstrasser H. Iron metabolism in Parkinsonian syndromes. Mov Disord 2006;21:1299-310.
3. Miyajima H. Genetic disorders affecting proteins of iron and copper metabolism: clinical implications. Intern Med 2002;41:762-9.
4. Curtis AR, Fey C, Morris CM, Bindoff LA, Ince PG, Chinnery PF, et al. Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease. Nat Genet 2001;28:350-4.
5. Gregory A, Hayflick SJ. Neurodegeneration with brain iron accumulation. Folia Neuropathol 2005;43:286-96.
6. Arosio P, Levi S. Ferritin, iron homeostasis, and oxidative damage. Free Radic Biol Med 2002;33:457-63.
7. Connor JR, Snyder BS, Arosio P, Loeffler DA, LeWitt P. A quantitative analysis of isoferritins in select regions of aged, parkinsonian, and Alzheimer's diseased brains. J Neurochem 1995;65:717-24.
8. Koziorowski D, Friedman A, Arosio P, Santambrogio P, Dziewulska D. ELISA reveals a difference in the structure of substantia nigra ferritin in Parkinson's disease and incidental Lewy body compared to control. Parkinsonism Relat Disord 2007;13:214-8.
9. Harrison PM, Arosio P. The ferritins: molecular properties, iron storage function and cellular regulation. Biochim Biophys Acta 1996;1275:161-203.
10. Levi S, Arosio P. Mitochondrial ferritin. Int J Biochem Cell Biol 2004;36:1887-9.
11. Cremonesi L, Foglieni B, Fermo I, Cozzi A, Paroni R, Ruggeri G, et al. Identification of two novel mutations in the 5′-untranslated region of H-ferritin using denaturing high performance liquid chromatography scanning. Haematologica 2003;88:1110-6.
12. Kato J, Fujikawa K, Kanda M, Fukuda N, Sasaki K, Takayama T, et al. A mutation, in the iron-responsive element of H ferritin mRNA, causing autosomal dominant iron overload. Am J Hum Genet 2001;69:191-7.
13. Felletschin B, Bauer P, Walter U, Behnke S, Spiegel J, Csoti I, et al. Screening for mutations of the ferritin light and heavy genes in Parkinson's disease patients with hyperechogenicity of the substantia nigra. Neurosci Lett 2003;352:53-6.
14. Thompson K, Menzies S, Muckenthaler M, Torti FM, Wood T, Torti SV, et al. Mouse brains deficient in H-ferritin have normal iron concentration but a protein profile of iron deficiency and increased evidence of oxidative stress. J Neurosci Res 2003;71:46-63.
15. Levi S, Cozzi A, Arosio P. Neuroferritinopathy: a neurodegenerative disorder associated with L-ferritin mutation. Best Pract Res Clin Haematol 2005;18:265-76.
16. Cazzola M, Skoda RC. Translational pathophysiology: a novel molecular mechanism of human disease. Blood 2000;95:3280-8.
17. Cremonesi L, Paroni R, Foglieni B, Galbiati S, Fermo I, Soriani N, et al. Scanning mutations of the 5′UTR regulatory sequence of L ferritin by denaturing HPLC: identification of new mutations. Br J Haematol 2003;121:173-9.
18. Cremonesi L, Cozzi A, Girelli D, Ferrari F, Fermo I, Foglieni B, et al. Case report: a subject with a mutation in the ATG start codon of L-ferritin has no haematological or neurological symptoms. J Med Genet 2004;41:E81.
19. Vidal R, Ghetti B, Takao M, Brefel-Courbon C, Uro-Coste E, Glazier BS, et al. Intracellular ferritin accumulation in neural and extraneural tissue characterizes a neurodegenerative disease associated with a mutation in the ferritin light polypeptide gene. J Neuropathol Exp Neurol 2004;63:363-80.
20. Mancuso M, Davidzon G, Kurlan RM, Tawil R, Bonilla E, Di Mauro S, et al. Hereditary ferritinopathy: a novel mutation, its cellular pathology, and pathogenetic insights. J Neuropathol Exp Neurol 2005;64:280-94.
21. Vidal R, Delisle MB, Ghetti B. Neurodegeneration caused by proteins with an aberrant carboxyl-terminus. J Neuropathol Exp Neurol 2004;63:787-800.
22. Cozzi A, Santambrogio P, Corsi B, Campanella A, Arosio P, Levi S. Characterization of the L-ferritin variant 460InsA responsible of a hereditary ferritinopathy disorder. Neurobiol Dis 2006;23:644-52.
23. Chen R, Langston JW, Chan P. Screening of ferritin light polypeptide 460-461InsA mutation in Parkinson's disease patients in North America. Neurosci Lett 2002;335:144-6.
24. Hughes AJ, Daniel SE, Kilford L, Lees AJ. Accuracy of clinical diagnosis of idiopathic Parkinson's disease: a clinico-pathological study of 100 cases. J Neurol Neurosurg Psychiatry 1992;55:181-4.
25. Hughes AJ, Daniel SE, Lees AJ. Improved accuracy of clinical diagnosis of Lewy body Parkinson's disease. Neurology 2001;57:1497-9.
26. Stenirri S, Fermo I, Battistella S, Galbiati S, Soriani N, Paroni R, et al. Denaturing HPLC profiling of the ABCA4 gene for reliable detection of allelic variations. Clin Chem 2004;50:1336-43.
27. Cozzi A, Levi S, Bazzigaluppi E, Ruggeri G, Arosio P. Development of an immunoassay for all human isoferritins, and its application to serum ferritin evaluation. Clin Chim Acta 1989;184:197-206.
28. Santambrogio P, Cozzi A, Levi S, Rovida E, Magni F, Albertini A, et al. Functional and immunological analysis of recombinant mouse H- and L-ferritins from Escherichia coli. Protein Expr Purif 2000;19:212-8.
29. Thomson AM, Cahill CM, Cho HH, Kassachau KD, Epis MR, Bridges KR, et al. The acute box cis-element in human heavy ferritin mRNA 5′-untranslated region is a unique translation enhancer that binds poly(C)-binding proteins. J Biol Chem 2005;280:30032-45.
30. Lee PL, Gelbart T, West C, Halloran C, Felitti V, Beutler E. A study of genes that may modulate the expression of hereditary hemochromatosis: transferrin receptor-1, ferroportin, ceruloplasmin, ferritin light and heavy chains, iron regulatory proteins (IRP)-1 and -2, and hepcidin. Blood Cells Mol Dis 2001;27:783-802.
31. Wang Z, Li C, Ellenburg M, Soistman E, Ruble J, Wright B, et al. Structure of human ferritin L chain. Acta Crystallogr D Biol Crystallogr 2006;62:800-6.
32. Maciel P, Cruz VT, Constante M, Iniesta I, Costa MC, Gallati S, et al. Neuroferritinopathy: missense mutation in FTL causing early-onset bilateral pallidal involvement. Neurology 2005;65:603-5.