Mutational screening analysis of DHCR24/Seladin-1 gene in Italian familial Alzheimer's disease

American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics

Volumn 147, Issue 1, 2008, Pages 117-119

  Tedde, Andrea ^a   Cellini, Elena ^a   Bagnoli, Silvia ^a   Sorbi, Sandro ^a   Peri, Alessandro ^a,b  

^a UNIVERSITY OF FLORENCE   (Italy)

^b Dipartimento di Medicina Interna   (Italy)

Author keywords

Alzheimer's disease; DHCR24 seladin 1; Genetics; Mutations; SNP

Indexed keywords

AMYLOID BETA PROTEIN; APOLIPOPROTEIN E4; CHOLESTEROL;

ALZHEIMER DISEASE; ARTICLE; DHCR24 GENE; ENZYME ACTIVITY; EXON; FAMILIAL DISEASE; GENE; GENE EXPRESSION REGULATION; GENE MUTATION; GENETIC SCREENING; GENOTYPE; HUMAN; ITALY; OXIDATIVE STRESS; PRIORITY JOURNAL; RISK FACTOR; SELADIN 1 GENE;

AGED; ALZHEIMER DISEASE; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; ITALY; MALE; MIDDLE AGED; MUTATION; NERVE TISSUE PROTEINS; OXIDOREDUCTASES ACTING ON CH-CH GROUP DONORS;

EID: 37849034905     PISSN: 15524841     EISSN: 1552485X     Source Type: Journal    
DOI: 10.1002/ajmg.b.30573     Document Type: Article

References (18)

1. Abad-Rodriguez J, Ledesma MD, Craessaerts K, Perga S, Medina M, Delacourte A, Dingwall C, De Strooper B, Dotti CG. 2004. Neuronal membrane cholesterol loss enhances amyloid peptide generation. J Cell Biol 167:953-960.
2. American Psychiatric Association. 1994. Diagnostic and Statistical Manual of Mental Disorders. 4th edition. (DSM-IV). Washington, DC: American Psychiatric Press.
3. Arispe N, Doh M. 2002. Plasma membrane cholesterol controls the cytotoxicity of Alzheimer's disease AbetaP (1-40) and (1-42) peptides. FASEB J 16:1526-1536.
4. Benvenuti S, Saccardi R, Luciani P, Urbani S, Deledda C, Cellai I, Francini F, Squecco R, Rosati F, Danza G, Gelmini S, Greve I, Rossi M, Maggi R, Serio M, Peri A. 2006. Neuronal differentiation of human mesenchymal stem cells: Changes in the expression of the Alzheimer's disease-related gene seladin-1. Exp Cell Res 312:2592-2604.
5. Crameri A, Biondi E, Kuehnle K, Lutjohann D, Thelen KM, Perga S, Dotti CG, Nitsch RM, Ledesma MD, Mohajeri MH. 2006. The role of seladin-1/DHCR24 in cholesterol biosynthesis, APP processing and Abeta generation in vivo. EMBO J 25:432-443.
6. Cruts M, van Duijn CM, Backhovens H, Van den Broeck M, Wehnert A, Serneels S, Sherrington R, Hutton M, Hardy J, St George-Hyslop PH, Hofman A, Van Broeckhoven C. 1998. Estimation of the genetic contribution of presenilin-1 and -2 mutations in a population-based study of presenile Alzheimer disease. Hum Mol Genet 7:43-51.
7. Goate A, Chartier-Harlin MC, Mullan M, Brown J, Crawford F, Fidani L, Giuffra L, Haynes A, Irving N, James L, Mant R, Newton P, Rooke K, Roques P, Talbot C, Pericak-Vance MA, Roses AD, Williamson R, Rossor M, Owen M, Hardy J. 1991. Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease. Nature 349:704-706.
8. Greeve I, Hermans-Borgmeyer I, Brellinger C, Kasper D, Gomez-Isla T, Behl C, Levkau B, Nitsch RM. 2001. The human DIMINUTO/DWARF1 homolog seladin-1 confers resistance to Alzheimer's disease-associated neurodegeneration and oxidative stress. J Neurosci 20:7345-7352.
9. Lie DC, Song H, Colamarino SA, Ming GL, Gage FH. 2004. Neurogenesis in the adult brain: New strategies for central nervous system diseases. Annu Rev Pharmacol Toxicol 44:399-421.
10. Nacmias B, Bagnoli S, Tedde A, Cellini E, Guarnieri BM, Bartoli A, Serio A, Piacentini S, Sorbi S. 2006. Cystatin C and apoe polymorphisms in Italian Alzheimer's disease. Neurosci Lett 392:110-113.
11. Rogaev EI, Sherrington R, Rogaeva EA, Levesque G, Ikeda M, Liang Y, Chi H, Lin C, Holman K, Tsuda T, Mar L, Sorbi S, Nacmias B, Piacentini S, Amaducci L, Chumakov I, Cohen D, Lannfelt L, Fraser PE, Rommens JM, St George-Hyslop PH. 1995. Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer's disease type 3 gene. Nature 376:775-778.
12. Selkoe DJ. 2001. Alzheimer's disease: Genes, proteins, and therapy. Physiol Rev 81:741-776.
13. Sherrington R, Rogaev EI, Liang Y, Rogaeva EA, Levesque G, Ikeda M, Chi H, Lin C, Li G, Holman K, Tsuda T, Mar L, Foncin JF, Bruni AC, Montesi MP, Sorbi S, Rainero I, Pinessi L, Nee L, Chumakov I, Pollen D, Brookes A, Sanseau P, Polinsky RT, Wasco W, Da Silva HAR, Haines JL, Pericak-Vance MA, Tanzi RE, Roses AD, Fraser PE, Rommens JM, St George-Hyslop PH. 1995. Cloning of a novel gene bearing missense mutations in early onset familial Alzheimer's disease. Nature 375:754-760.
14. Sorbi S, Nacmias B, Forleo P, Latorraca S, Gobbini I, Bracco L, Piacentini S, Amaducci L. 1994. ApoE allele frequencies in Italian sporadic and familial Alzheimer's disease. Neurosci Lett 177:100-102.
15. Strittmatter WJ, Saunders AM, Schmechel D, Pericak-Vance M, Enghild J, Salvesen GS, Roses AD. 1993. Apolipoprotein E: High-avidity binding to beta-amyloid and increased frequency of type 4 allele in late-onset familial Alzheimer disease. Proc Natl Acad Sci USA 90:1977-1981.
16. The Dementia Study Group of the Italian Neurological Society. 2000. Guidelines for the diagnosis of dementia and Alzheimer's disease. Ital J Neurol Sci 21:187-194.
17. Waterham HR, Koster J, Romeijn GJ, Hennekam RC, Vreken P, Andersson HC, FitzPatrick DR, Kelley RI, Wanders RJ. 2001. Mutations in the 3beta-hydroxysterol Delta24-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesis. Am J Hum Genet 69:685-694.
18. Zhou L, Wang L, Palais R, Pryor R, Wittwer CT. 2005. High-resolution DNA melting analysis for simultaneous mutation scanning and genotyping in solution. Clin Chem 51:1770-1777.