Choroideremia is a systemic disease with lymphocyte crystals and plasma lipid and RBC membrane abnormalities

Investigative Ophthalmology and Visual Science

Volumn 56, Issue 13, 2015, Pages 8158-8165

  Zhang, Alice Yang ^a   Mysore, Naveen ^a   Vali, Hojatollah ^a   Koenekoop, Jamie ^a   Cao, Sang Ni ^a   Li, Shen ^a   Ren, Huanan ^a   Keser, Vafa ^a   Lopez Solache, Irma ^a   Siddiqui, Sorath Noorani ^a   Khan, Ayesha ^a   Mui, Jeannie ^a   Sears, Kelly ^a   Dixon, Jim ^b   Schwartzentruber, Jeremy ^a,c   Majewski, Jacek ^a,c   Braverman, Nancy ^a,d   Koenekoop, Robert K ^a  

^a MCGILL UNIVERSITY   (Canada)

^b MONTREAL CHILDREN S HOSPITAL   (Canada)

^c Genome Centre Quebec   (Canada)

^d RESEARCH INSTITUTE OF THE MCGILL UNIVERSITY HEALTH CENTRE   (Canada)

Author keywords

Bietti s crystalline dystrophy; Choroideremia; Fatty acid metabolism; Lymphocyte crystals; Plasmalogens; Retinal degeneration; Retinal tubulations

Indexed keywords

ADULT; ARTICLE; AUTOFLUORESCENCE; CHOROIDEREMIA; CLINICAL ARTICLE; CONTROLLED STUDY; DISORDERS OF LIPID AND LIPOPROTEIN METABOLISM; ERYTHROCYTE FRAGILITY; FATTY ACID BLOOD LEVEL; FEMALE; GENE; GENE MUTATION; GENE SEQUENCE; GENOTYPE; HEMATOLOGIC DISEASE; HUMAN; LEUKOCYTE DISORDER; MALE; MASS FRAGMENTOGRAPHY; OPTICAL COHERENCE TOMOGRAPHY; PHENOTYPE; PRIORITY JOURNAL; REP1 GENE; RETINA DYSTROPHY; TRANSMISSION ELECTRON MICROSCOPY; VISUAL ACUITY; X CHROMOSOME LINKED DISORDER; BLOOD; CONGENITAL CORNEA DYSTROPHY; DNA MUTATIONAL ANALYSIS; ELECTRON MICROSCOPY; ERYTHROCYTE MEMBRANE; GENETICS; LYMPHOCYTE; METABOLISM; MIDDLE AGED; MUTATION; PATHOLOGY; RETINA; RETINA DISEASE; ULTRASTRUCTURE;

CHM PROTEIN, HUMAN; DNA; LIPID; SIGNAL TRANSDUCING ADAPTOR PROTEIN;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ADULT; CHOROIDEREMIA; CORNEAL DYSTROPHIES, HEREDITARY; DNA; DNA MUTATIONAL ANALYSIS; ERYTHROCYTE MEMBRANE; FEMALE; GENOTYPE; HUMANS; LIPIDS; LYMPHOCYTES; MALE; MICROSCOPY, ELECTRON; MIDDLE AGED; MUTATION; RETINA; RETINAL DISEASES; TOMOGRAPHY, OPTICAL COHERENCE;

EID: 84952896570     PISSN: 01460404     EISSN: 15525783     Source Type: Journal    
DOI: 10.1167/iovs.14-15751     Document Type: Article

References (21)

1. Mauthner, H. Ein fall von choroideremia. Ber Naturw Med Ver Innsbruck. 1872;2:191.
2. Wolff, S. Choroideremia. Arch Ophthalmol. 1930;3:80-87.
3. Cremers FP, van de Pol DJ, van Kerkhoff LP, Wieringa B, Ropers HH. Cloning of a gene that is rearranged in patients with choroideraemia. Nature. 1990;347:674-677.
4. MacDonald IM, Russell L, Chan CC. Choroideremia: new findings from ocular pathology and review of recent literature. Surv Ophthalmol. 2009;54:401-407.
5. Cremers FP, Armstrong SA, Seabra MC, Brown MS, Goldstein JL. REP-2, a Rab escort protein encoded by the choroideremia-like gene. J Biol Chem. 1994;269:2111-2117.
6. Wavre-Shapton ST, Tolmachova T, Lopes da Silva M, Futter CE, Seabra MC. Conditional ablation of the choroideremia genecauses age-related changes in mouse retinal pigment epithelium. PLoS One. 2013;8:e57769.
7. Strunnikova NV, Barb J, Sergeev YV, et al. Loss-of-function mutations in Rab escort protein 1 (REP-1) affect intracellular transport in fibroblasts and monocytes of choroideremia patients. PLoS One. 2009;4:e8402.
8. Lee J, Jiao X, Hejtmancik F, et al. The metabolism of fatty acids in human Bietti crystalline dystrophy. Invest Ophthalmol Vis Sci. 2001;42:1707-1714.
9. Lai TY, Chu KO, Chan KP, et al. Alterations in serum fatty acid concentrations and desaturase activities in Bietti crystalline dystrophy unaffected by CYP4V2 genotypes. Invest Ophthalmol Vis Sci. 2010;51:1092-1097.
10. Steinberg S, Jones R, Tiffany C, Moser A. Investigational methods for peroxisomal disorders. Curr Protoc Hum Genet. 2008;Chapter 17:Unit 17.6.1.
11. Fahiminiya S, Majewski J, Roughley P, et al. Whole-exome sequencing reveals a heterozygous LRP5 mutation in a 6-year-old boy with vertebral compression fractures and low trabecular bone density. Bone. 2013;57:41-46.
12. Li H, Durbin R. Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics. 2009;25:1754-1760.
13. Li H, Handsaker B, Wysoker A, et al. The Sequence Alignment/ Map format and SAMtools. Bioinformatics. 2009;25:2078-2079.
14. Wang K, Li M, Hakonarson H. ANNOVAR: functional annota- tion of genetic variants from high-throughput sequencing data. Nucleic Acids Res. 2010;38:e164-e164.
15. van den Hurk JA, Schwarz M, van Bokhoven H, et al. Molecular basis of choroideremia (CHM): mutations involving the Rab escort protein-1 (REP-1) gene. Hum Mutat. 1997;9:110-117.
16. Flannery JG, Bird AC, Farber DB, Weleber RG, Bok D. A histopathologic study of a choroideremia carrier. Invest Ophthalmol Vis Sci. 1990;31:229-236.
17. Rodrigues MM, Ballintine EJ, Wiggert BN, et al. Choroideremia: a clinical, electron microscopic, and biochemical report. Ophthalmology. 1984;91:873-883.
18. Kohnke M, Delon C, Hastie ML, et al. Rab GTPase prenylation hierarchy and its potential role in choroideremia disease. PLoS One. 2013;8:e81758.
19. Braverman NE, Moser AB. Functions of plasmalogen lipids in health and disease. Biochim Biophys Acta. 2012;1822:1442-1452.
20. Schaefer EJ, Robins SJ, Patton GM, et al. Red blood cell membrane phosphatidylethanolamine fatty acid content in various forms of retinitis pigmentosa. J Lipid Res. 1995;36: 1427-1433.
21. Mohanty BP, Bhattacharjee S, Paria P, Mahanty A, Sharma AP. Lipid biomarkers of lens aging. Appl Biochem Biotechnol. 2013;169:192-200.