Absence of mtDNA mutations in leukocytes of CADASIL patients

BMC Research Notes

Volumn 1, Issue , 2008, Pages

  Abu Amero, Khaled K ^a   Hellani, Ali ^a   Bohlega, Saeed ^a  

^a KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 76949094693     PISSN: None     EISSN: 17560500     Source Type: Journal    
DOI: 10.1186/1756-0500-1-16     Document Type: Article

References (21)

1. Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia. A Joutel C Corpechot A Ducros K Vahedi H Chabriat P Mouton S Alamowitch V Domenga M Cecillion E Marechal,, et al. Nature 1996 383 6602 707 710 10.1038/383707a0 8878478
2. Peripheral nerve and skeletal muscle involvement in CADASIL. JM Schroder S Zuchner M Dichgans Z Nagy MJ Molnar, Acta neuropathologica 2005 110 6 587 599 10.1007/s00401-005-1082-9 16328531
3. A novel NOTCH3 frameshift deletion and mitochondrial abnormalities in a patient with CADASIL. MT Dotti N De Stefano S Bianchi A Malandrini C Battisti E Cardaioli A Federico, Archives of neurology 2004 61 6 942 945 10.1001/archneur.61.6.942 15210536
4. A novel mitochondrial DNA mutation and a mutation in the Notch3 gene in a patient with myopathy and CADASIL. S Finnila S Tuisku R Herva K Majamaa, Journal of molecular medicine (Berlin, Germany) 2001 79 11 641 647 11715067
5. Mitochondrial DNA sequence variation and mutation rate in patients with CADASIL. J Annunen-Rasila S Finnila K Mykkanen JS Moilanen J Veijola M Poyhonen M Viitanen H Kalimo K Majamaa, Neurogenetics 2006 7 3 185 194 10.1007/s10048-006-0049-x 16807713
6. Mitochondrial dysfunction associated with a mutation in the Notch3 gene in a CADASIL family. P de la Pena B Bornstein P del Hoyo MA Fernandez-Moreno MA Martin Y Campos C Gomez-Escalonilla JA Molina A Cabello J Arenas,, et al. Neurology 2001 57 7 1235 1238 11591842
7. Flow cytometric detection of mitochondrial dysfunction in subpopulations of human mononuclear cells. D Kunz C Luley K Winkler H Lins WS Kunz, Analytical biochemistry 1997 246 2 218 224 10.1006/abio.1997.2007 9073359 (Pubitemid 27120182)
8. The use of lymphocytes to screen for oxidative phosphorylation disorders. BJ Marriage MT Clandinin IM MacDonald DM Glerum, Analytical biochemistry 2003 313 1 137 144 10.1016/S0003-2697(02)00539-0 12576069
9. Assay of mitochondrial functions by resazurin in vitro. HX Zhang GH Du JT Zhang, Acta pharmacologica Sinica 2004 25 3 385 389 15000895
10. Detection of mitochondrial respiratory dysfunction in circulating lymphocytes using resazurin. KK Abu-Amero TM Bosley, Arch Pathol Lab Med 2005 129 10 1295 1298 16196519
11. Major genomic mitochondrial lineages delineate early human expansions. N Maca-Meyer AM Gonzalez JM Larruga C Flores VM Cabrera, BMC genetics 2001 2 13 11553319 10.1186/1471-2156-2-13 (Pubitemid 38751013)
12. Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA. RM Andrews I Kubacka PF Chinnery RN Lightowlers DM Turnbull N Howell, Nat Genet 1999 23 2 147 10.1038/13779 10508508
13. MITOMAP: A human mitochondrial genome database-2004 update. MC Brandon M Lott KC Nguyen S Spolim SB Navathe P Baldi D Wallace, Nucleic Acids Res 2005 33 Database 611 613 http://www.mitomap.org 15608272
14. mtDB: Human Mitochondrial Genome Database, a resource for population genetics and medical sciences. M Ingman U Gyllensten, Nucleic Acids Res 2006 34 Database 749 751 16381973 10.1093/nar/gkj010
15. GenBank. DA Benson I Karsch-Mizrachi DJ Lipman J Ostell DL Wheeler, Nucleic Acids Res 2008 36 Database 25 30 18073190
16. What is a 'novel' mtDNA mutation-and does 'novelty' really matter? HJ Bandelt A Salas CM Bravi, Journal of human genetics 2006 51 12 1073 1082 10.1007/s10038-006-0066-5 17021933
17. Mitochondrial DNA analysis: polymorphisms and pathogenicity. PF Chinnery N Howell RM Andrews DM Turnbull, Journal of medical genetics 1999 36 7 505 510 10424809
18. Human non-synonymous SNPs: server and survey. V Ramensky P Bork S Sunyaev, Nucleic Acids Res 2002 30 17 3894 3900 12202775 10.1093/nar/gkf493
19. CADASIL in Arabs: clinical and genetic findings. S Bohlega A Al Shubili A Edris A Alreshaid T Alkhairallah MW AlSous S Farah KK Abu-Amero, BMC medical genetics 2007 8 67 17996090 10.1186/1471-2350-8-67
20. Mitochondrial DNA structure in the Arabian Peninsula. K Abu-Amero JM Larruga VM Cabrera AM Gonzalez, BMC Evol Biol 2008 8 45 18269758 10.1186/1471-2148-8-45 (Pubitemid 351406294)
21. http://genetics.bwh.harvard.edu/pph/