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Gene Review

HMCN1  -  hemicentin 1

Homo sapiens

Synonyms: ARMD1, FBLN6, FIBL-6, FIBL6, Fibulin-6, ...
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Disease relevance of HMCN1


Psychiatry related information on HMCN1

  • Significant differences (t=-2.91, df=25, p=0.008) were found between the Alzheimer's Disease Assessment Scale (ADAS) total scores in the ARMD patients with at least one epsilon 4 allele (mean=24.2) compared with the ARMD patients without the epsilon 4 allele (mean=14.7) [6].
  • Thus, with a view to determining whether APOE genotyping could be useful in the early detection of AD, we determined the Apoe allele frequencies in patients with memory complaints without dementia (age-related memory decline, ARMD) [6].
  • METHODS: Four groups were used in this psychometric evaluation: an asymptomatic normative population (NP; n = 50), an acute musculoskeletal disorder population (AMD; n = 52), a chronic disabled musculoskeletal disorder population (CDMD; n = 230), and a heterogeneous pain population (HP; n = 114) [7].

High impact information on HMCN1

  • Age-related macular degeneration (AMD; OMIM #603075) is the most frequent cause of visual impairment in the elderly population, with severe disease affecting nearly 10% of individuals of European descent over the age of 75 years [8].
  • Detailed analysis showed a common haplotype associated with decreased risk of AMD that was present on 20% of chromosomes of controls and 8% of chromosomes of individuals with AMD [8].
  • Mutations were not observed in any of the 11 exons of EFEMP1 nor in exon 104 of hemicentin-1 [9].
  • A recently identified Gln5345Arg change in HEMICENTIN-1 on chromosome 1q25 was not detected in 274 affected members in the restricted group with AMD, 346 additional patients with AMD, and 237 unaffected controls [10].
  • Here, we narrow the ARMD1 locus to 14.9 Mb between LAMB2 and D1S3469, a region containing 50 known genes [1].

Chemical compound and disease context of HMCN1

  • Elderly human subjects with and without AMD can safely take supplements of lutein up to 10 mg/d for 6 months with no apparent toxicity or side effects [11].
  • RESULTS: In the 291 eyes analyzed, NIR fluorescence was observed in 51 and was graded weak in 27 with wet age-related macular degeneration (AMD, 10 cases), dry AMD with pigment clumping (n=7), chronic central serous choroidopathy (CSC; n=5), choroidal nevi (n=2), subretinal hemorrhages (n=2), and chloroquine maculopathy (n=1) [12].
  • Experiments using 32P-labeled DNA fragments obtained from a human gene showed that ultraviolet A-irradiated folic acid or PCA caused DNA cleavage specifically at consecutive G residues in double-stranded DNA after Escherichia coli formamidopyrimidine-DNA glycosylase or piperidine treatment [13].
  • The effect of dimethylsulfoxide (DMSO) and iododeoxyuridine (IUdR) on the growth characteristics of two established human glioblastoma cell lines (FG and HMCN-1) was studied [14].
  • The night blindness associated with Sorsby fundus dystrophy can be reversed over the short term with vitamin A. A significant trend for decreased risk for advanced or exudative ARMD has been reported among those whose diets contain a higher content of carotenoids, such as spinach and collard greens [15].

Biological context of HMCN1


Anatomical context of HMCN1


Associations of HMCN1 with chemical compounds

  • The amino acid at position 5345 of HEMICENTIN-1 was conserved as glutamine in eight species analyzed [1].
  • METHODS: Twenty-five Japanese unrelated patients with dry AMD who were diagnosed by fluorescein angiography and indocyanine green angiography were chosen as the dry AMD group [17].
  • CONCLUSION: We conclude that the addition of DOX to the combination of VCR plus AMD appeared to improve the 6-year relapse-free survival rate of children with CCSK [5].
  • These results were achieved with the use of standard treatments, ie, surgery, RT, and chemotherapy using dactinomycin (AMD), vincristine (VCR), and Adriamycin [( ADR] doxorubicin; Adria Laboratories, Columbus, OH) [22].
  • Consistent with these findings, we show that pharmacologic elevation of cAMP with the phosphodiesterase inhibitor Rolipram suppresses tumor cell growth in vitro and, upon oral administration, inhibits intracranial growth in xenograft models of malignant brain tumors with comparable efficacy to AMD 3465 [23].
  • Associations between rs743137 (P = 0.05) and rs680638 (P = 0.022) in HMCN1 with calculated creatinine clearance progression were also observed [24].

Other interactions of HMCN1


Analytical, diagnostic and therapeutic context of HMCN1

  • RT-PCR analysis demonstrated that exon 104 of HEMICENTIN-1 is alternatively spliced in various cell types [1].
  • When a mutation was detected, the occurrence of a mutation was compared between these AMD patients and the control group [17].
  • Antioxidant intervention studies indicated both similarities and differences between PCA and pyocyanin [19].
  • The presence of some similar changes in human AMD retinas suggests that these findings are of broad significance for determining the likely events in transplantation of neurons in the human retina and elsewhere [26].
  • METHODS: AF [787] fundus images (excitation [Exc.] 787 nm; emission [Emi.] >800 nm) were recorded with a confocal scanning laser ophthalmoscope, in 85 normal subjects (ages: 11-77 years) and in 25 patients with AMD and other retinal diseases [27].


  1. Analysis of the ARMD1 locus: evidence that a mutation in HEMICENTIN-1 is associated with age-related macular degeneration in a large family. Schultz, D.W., Klein, M.L., Humpert, A.J., Luzier, C.W., Persun, V., Schain, M., Mahan, A., Runckel, C., Cassera, M., Vittal, V., Doyle, T.M., Martin, T.M., Weleber, R.G., Francis, P.J., Acott, T.S. Hum. Mol. Genet. (2003) [Pubmed]
  2. Posterior column ataxia with retinitis pigmentosa (AXPC1) maps to chromosome 1q31-q32. Higgins, J.J., Morton, D.H., Loveless, J.M. Neurology (1999) [Pubmed]
  3. Clinical and metabolic correction of pompe disease by enzyme therapy in acid maltase-deficient quail. Kikuchi, T., Yang, H.W., Pennybacker, M., Ichihara, N., Mizutani, M., Van Hove, J.L., Chen, Y.T. J. Clin. Invest. (1998) [Pubmed]
  4. Acute toxicities associated with radiation in the second National Wilms' Tumor Study. Thomas, P.R., Tefft, M., D'Angio, G.J., Norkool, P. J. Clin. Oncol. (1988) [Pubmed]
  5. Treatment of children with clear-cell sarcoma of the kidney: a report from the National Wilms' Tumor Study Group. Green, D.M., Breslow, N.E., Beckwith, J.B., Moksness, J., Finklestein, J.Z., D'Angio, G.J. J. Clin. Oncol. (1994) [Pubmed]
  6. High apolipoprotein E epsilon 4 allele frequency in age-related memory decline. Blesa, R., Adroer, R., Santacruz, P., Ascaso, C., Tolosa, E., Oliva, R. Ann. Neurol. (1996) [Pubmed]
  7. The pain disability questionnaire: a new psychometrically sound measure for chronic musculoskeletal disorders. Anagnostis, C., Gatchel, R.J., Mayer, T.G. Spine. (2004) [Pubmed]
  8. A common CFH haplotype, with deletion of CFHR1 and CFHR3, is associated with lower risk of age-related macular degeneration. Hughes, A.E., Orr, N., Esfandiary, H., Diaz-Torres, M., Goodship, T., Chakravarthy, U. Nat. Genet. (2006) [Pubmed]
  9. Dissection of genomewide-scan data in extended families reveals a major locus and oligogenic susceptibility for age-related macular degeneration. Iyengar, S.K., Song, D., Klein, B.E., Klein, R., Schick, J.H., Humphrey, J., Millard, C., Liptak, R., Russo, K., Jun, G., Lee, K.E., Fijal, B., Elston, R.C. Am. J. Hum. Genet. (2004) [Pubmed]
  10. Age-related macular degeneration: a high-resolution genome scan for susceptibility loci in a population enriched for late-stage disease. Abecasis, G.R., Yashar, B.M., Zhao, Y., Ghiasvand, N.M., Zareparsi, S., Branham, K.E., Reddick, A.C., Trager, E.H., Yoshida, S., Bahling, J., Filippova, E., Elner, S., Johnson, M.W., Vine, A.K., Sieving, P.A., Jacobson, S.G., Richards, J.E., Swaroop, A. Am. J. Hum. Genet. (2004) [Pubmed]
  11. The effect of lutein and zeaxanthin supplementation on metabolites of these carotenoids in the serum of persons aged 60 or older. Khachik, F., de Moura, F.F., Chew, E.Y., Douglass, L.W., Ferris, F.L., Kim, J., Thompson, D.J. Invest. Ophthalmol. Vis. Sci. (2006) [Pubmed]
  12. Fundus near infrared fluorescence correlates with fundus near infrared reflectance. Weinberger, A.W., Lappas, A., Kirschkamp, T., Mazinani, B.A., Huth, J.K., Mohammadi, B., Walter, P. Invest. Ophthalmol. Vis. Sci. (2006) [Pubmed]
  13. Sequence-specific DNA damage induced by ultraviolet A-irradiated folic acid via its photolysis product. Hirakawa, K., Suzuki, H., Oikawa, S., Kawanishi, S. Arch. Biochem. Biophys. (2003) [Pubmed]
  14. Effect of differentiation inducers on growth characteristics of human glioma cell lines. Geder, L., Kreider, J.W., Towfighi, J., Page, R.B., Ladda, R.L., Brennan, R.W., Rapp, F. J. Neurooncol. (1987) [Pubmed]
  15. Nutrition and retinal degenerations. Berson, E.L. International ophthalmology clinics. (2000) [Pubmed]
  16. Polymorphisms in Complement Factor H and Hemicentin-1 Genes in a Japanese Population With Dry-type Age-related Macular Degeneration. Fuse, N., Miyazawa, A., Mengkegale, M., Yoshida, M., Wakusawa, R., Abe, T., Tamai, M. Am. J. Ophthalmol. (2006) [Pubmed]
  17. Molecular genetic analysis of ABCR gene in Japanese dry form age-related macular degeneration. Fuse, N., Suzuki, T., Wada, Y., Yoshida, M., Shimura, M., Abe, T., Nakazawa, M., Tamai, M. Jpn. J. Ophthalmol. (2000) [Pubmed]
  18. Hemicentin, a conserved extracellular member of the immunoglobulin superfamily, organizes epithelial and other cell attachments into oriented line-shaped junctions. Vogel, B.E., Hedgecock, E.M. Development (2001) [Pubmed]
  19. Pyocyanin and its precursor phenazine-1-carboxylic acid increase IL-8 and intercellular adhesion molecule-1 expression in human airway epithelial cells by oxidant-dependent mechanisms. Look, D.C., Stoll, L.L., Romig, S.A., Humlicek, A., Britigan, B.E., Denning, G.M. J. Immunol. (2005) [Pubmed]
  20. Immunoreactivity against tau, amyloid precursor protein, and beta-amyloid in the human retina. Löffler, K.U., Edward, D.P., Tso, M.O. Invest. Ophthalmol. Vis. Sci. (1995) [Pubmed]
  21. Macular pigment and percentage of body fat. Nolan, J., O'Donovan, O., Kavanagh, H., Stack, J., Harrison, M., Muldoon, A., Mellerio, J., Beatty, S. Invest. Ophthalmol. Vis. Sci. (2004) [Pubmed]
  22. Prognostic factors for children with recurrent Wilms' tumor: results from the Second and Third National Wilms' Tumor Study. Grundy, P., Breslow, N., Green, D.M., Sharples, K., Evans, A., D'Angio, G.J. J. Clin. Oncol. (1989) [Pubmed]
  23. Blocking CXCR4-mediated cyclic AMP suppression inhibits brain tumor growth in vivo. Yang, L., Jackson, E., Woerner, B.M., Perry, A., Piwnica-Worms, D., Rubin, J.B. Cancer Res. (2007) [Pubmed]
  24. Complement factor H and hemicentin-1 in age-related macular degeneration and renal phenotypes. Thompson, C.L., Klein, B.E., Klein, R., Xu, Z., Capriotti, J., Joshi, T., Leontiev, D., Lee, K.E., Elston, R.C., Iyengar, S.K. Hum. Mol. Genet. (2007) [Pubmed]
  25. Cloning, modeling, and chromosomal localization for a small leucine-rich repeat proteoglycan (SLRP) family member expressed in human eye. Hobby, P., Wyatt, M.K., Gan, W., Bernstein, S., Tomarev, S., Slingsby, C., Wistow, G. Mol. Vis. (2000) [Pubmed]
  26. Neuronal migration and glial remodeling in degenerating retinas of aged rats and in nonneovascular AMD. Sullivan, R., Penfold, P., Pow, D.V. Invest. Ophthalmol. Vis. Sci. (2003) [Pubmed]
  27. Near-infrared autofluorescence imaging of the fundus: visualization of ocular melanin. Keilhauer, C.N., Delori, F.C. Invest. Ophthalmol. Vis. Sci. (2006) [Pubmed]
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