Genome-wide expression profile of LHON patients with the 11778 mutation

British Journal of Ophthalmology

Volumn 94, Issue 2, 2010, Pages 256-259

  Abu Amero, Khaled K ^a   Jaber, Mohammad ^b   Hellani, Ali ^c   Bosley, Thomas M ^a,d  

^a KING SAUD UNIVERSITY   (Saudi Arabia)

^b Gulf Scientific Corporation (GSC)   (United Arab Emirates)

^c SAAD SPECIALIST HOSPITAL   (Saudi Arabia)

^d Department of Anesthesiology   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL DNA; RNA;

APOPTOSIS; ARTICLE; BONE DEVELOPMENT; CARBOHYDRATE METABOLISM; CASE REPORT; CELL ADHESION; CELL CYCLE; CELL MATURATION; CELL PROLIFERATION; CELL TRANSPORT; CONTROLLED STUDY; DNA SEQUENCE; DOWN REGULATION; ELECTRON TRANSPORT; ENZYME ACTIVATION; GENE AMPLIFICATION; GENE EXPRESSION PROFILING; GENE EXPRESSION REGULATION; GENE FUNCTION; GENE STRUCTURE; GROWTH REGULATION; HUMAN; HUMAN CELL; IMMUNE RESPONSE; LEBER HEREDITARY OPTIC NEUROPATHY; LEUKOCYTE; LIPID METABOLISM; MALE; MEMBRANE PERMEABILITY; MITOCHONDRIAL MEMBRANE POTENTIAL; MITOCHONDRION; MUSCLE CONTRACTION; MUTATIONAL ANALYSIS; NERVE CELL DIFFERENTIATION; POINT MUTATION; PRINCIPAL COMPONENT ANALYSIS; PRIORITY JOURNAL; PROTEIN ASSEMBLY; PROTEIN DEGRADATION; PROTEIN FOLDING; PROTEIN PHOSPHORYLATION; REVERSE TRANSCRIPTION; RNA ANALYSIS; RNA EXTRACTION; RNA HYBRIDIZATION; RNA PROCESSING; SEQUENCE ANALYSIS; SIGNAL TRANSDUCTION; TRANSCRIPTION REGULATION; TRANSLATION REGULATION; UPREGULATION; VISION;

ADOLESCENT; CHILD; DNA, MITOCHONDRIAL; DOWN-REGULATION; GENE EXPRESSION PROFILING; GTP PHOSPHOHYDROLASES; HUMANS; MALE; MUTATION; OPTIC ATROPHY, HEREDITARY, LEBER; PRINCIPAL COMPONENT ANALYSIS; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; YOUNG ADULT;

EID: 76149115561     PISSN: 00071161     EISSN: 14682079     Source Type: Journal    
DOI: 10.1136/bjo.2009.165571     Document Type: Article

References (24)

1. Carelli V, Ross-Cisneros FN, Sadun AA. Optic nerve degeneration and mitochondrial dysfunction: genetic and acquired optic neuropathies. Neurochem Int 2002;40:573-84.
2. Man PY, Turnbull DM, Chinnery PF. Leber hereditary optic neuropathy. J Med Genet 2002;39:162-9.
3. Sadun AA, Win PH, Ross-Cisneros FN, et al. Leber's hereditary optic neuropathy differentially affects smaller axons in the optic nerve. Trans Am Ophthalmol Soc 2000;98:223-32. [discussion 223-25].
4. Wallace DC, Singh G, Lott MT, et al. Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy. Science 1988;242:1427-30.
5. Howell N, Bindoff LA, McCullough DA, et al. Leber hereditary optic neuropathy: identification of the same mitochondrial ND1 mutation in six pedigrees. Am J Hum Genet 1991;49:939-50.
6. Tang Y, Gilbert DL, Glauser TA, et al. Blood gene expression profiling of neurologic diseases: a pilot microarray study. Arch Neurol 2005;62:210-15.
7. Danielson SR, Carelli V, Tan G, et al. Isolation of transcriptomal changes attributable to LHON mutations and the cybridization process. Brain 2005;128:1026-37.
8. Abu-Amero KK, Bosley TM. Mitochondrial abnormalities in patients with LHON-like optic neuropathies. Invest Ophthalmol Vis Sci 2006;47:4211-20.
9. Abu-Amero KK, Bosley TM. Detection of mitochondrial respiratory dysfunction in circulating lymphocytes using resazurin. Arch Pathol Lab Med 2005;129:1295-8.
10. Bosley TM, Abu-Amero KK, Ozand PT. Mitochondrial DNA nucleotide changes in nonarteritic ischemic optic neuropathy. Neurology 2004;63:1305-8.
11. Dennis G Jr, Sherman BT, Hosack DA, et al. DAVID: Database for Annotation, Visualization, and Integrated Discovery. Genome Biol 2003;4:P3.
12. Hosack DA, Dennis G Jr, Sherman BT, et al. Identifying biological themes within lists of genes with EASE. Genome Biol 2003;4:R70.
13. Barrientos A, Casademont J, Cardellach F, et al. Qualitative and quantitative changes in skeletal muscle mtDNA and expression of mitochondrial-encoded genes in the human aging process. Biochem Mol Med 1997;62:165-71.
14. Jahangir Tafrechi RS, Svensson PJ, Janssen GM, et al. Distinct nuclear gene expression profiles in cells with mtDNA depletion and homoplasmic A3243G mutation. Mutat Res 2005;578:43-52.
15. Heddi A, Stepien G, Benke PJ, et al. Coordinate induction of energy gene expression in tissues of mitochondrial disease patients. J Biol Chem 1999;274:22968-76.
16. Olichon A, Baricault L, Gas N, et al. Loss of OPA1 perturbates the mitochondrial inner membrane structure and integrity, leading to cytochrome c release and apoptosis. J Biol Chem 2003;278:7743-6.
17. Butow RA, Avadhani NG. Mitochondrial signaling: the retrograde response. Mol Cell 2004;14:1-15.
18. Beretta S, Mattavelli L, Sala G, et al. Leber hereditary optic neuropathy mtDNA mutations disrupt glutamate transport in cybrid cell lines. Brain 2004;127:2183-92.
19. Sala G, Trombin F, Beretta S, et al. Antioxidants partially restore glutamate transport defect in Leber hereditary optic neuropathy cybrids. J Neurosci Res 2008;86:3331-7.
20. Iskandar BJ, Nelson A, Resnick D, et al. Folic acid supplementation enhances repair of the adult central nervous system. Ann Neurol 2004;56:221-7.
21. Nur EKA, Gross SR, Pan Z, et al. Nuclear translocation of cytochrome c during apoptosis. J Biol Chem 2004;279:24911-14.
22. Carter KL, Cahir-McFarland E, Kieff E. EpsteineBarr virus-induced changes in B-lymphocyte gene expression. J Virol 2002;76:10427-36.
23. Choi AM, Knobil K, Otterbein SL, et al. Oxidant stress responses in influenza virus pneumonia: gene expression and transcription factor activation. Am J Physiol 1996;271:L383-91.
24. Lassoued S, Ben Ameur R, Ayadi W, et al. Epsteine - Barr virus induces an oxidative stress during the early stages of infection in B lymphocytes, epithelial, and lymphoblastoid cell lines. Mol Cell Biochem 2008;313:179-86.