Skip to content
BY-NC-ND 3.0 license Open Access Published by De Gruyter Open Access March 11, 2015

LDOC1 expression in fibroblasts of patients with Down syndrome

  • Michele Salemi , Concetta Barone , Carmelo Romano , Salvatore Caniglia , Alda Ragalmuto , Francesco Scillato , Maria Grazia Salluzzo , Cataldo Scavuzzo , Mirella Vinci , Roberto Salluzzo , Corrado Romano and Paolo Bosco
From the journal Open Life Sciences


Down syndrome (DS) is characterised by intellectual disability and is caused by trisomy 21. Apoptosis is a programmed cell death process and is involved in neurodegenerative diseases such as Alzheimer. People with DS can develop some traits of Alzheimer disease at an earlier age than subjects without trisomy 21. The leucine zipper, down regulated in cancer 1 (LDOC1) appears to be involved in the apoptotic pathways. The aim of the present work was to detect the presence of intracellular synthesis of LDOC1 protein and LDOC1 mRNA in fibroblast cultures from DS subjects. The western blot shows the presence of LDOC1 protein in fibroblasts of DS subjects but no evidence of LDOC1 protein in fibroblasts of normal subjects. LDOC1 gene mRNA expression is increased in fibroblasts from DS subjects compared to fibroblasts from normal subjects. The data obtained from this study strengthen the hypothesis that the over-expression of LDOC1 gene could play a role in determining the phenotype of individuals with DS but does not exclude that this results from apoptotic mechanisms.


[1] Capone G.T., Down syndrome: advances in molecular biology and the neurosciences, J. Dev. Behav. Pediatr., 2001, 22, 40-59 10.1097/00004703-200102000-00007Search in Google Scholar

[2] Warburton D., Dallaire L., Thangavelu M., Ross L., Levin B., Kline J., Trisomy recurrence: a reconsideration based on North American data, Am. J. Hum Genet., 2004, 75, 376-85 10.1086/423331Search in Google Scholar

[3] Newberger D.S., Down Syndrome: Prenatal risk assessment and diagnosis, Am. Fam. Physician., 2000, 62,825-832 Search in Google Scholar

[4] Elmore S., Apoptosis: a review of programmed cell death, Toxicol. Pathol., 2007, 35, 495-516 10.1080/01926230701320337Search in Google Scholar

[5] Sharp A.J., Locke D.P., McGrath S.D., Cheng Z., Bailey J.A., Vallente R.U., et al., Segmental duplications and copy-number variation in the human genome, Am. J. Hum. Genet., 2005, 77, 78-88 10.1086/431652Search in Google Scholar

[6] Shaw C.J., Lupski J.R., Implications of human genome architecture for rearrangement-based disorders: the genomic basis of disease, Hum .Mol. Genet., 2004, 1,57-64 10.1093/hmg/ddh073Search in Google Scholar

[7] Nagasaki K., Manabe T., Hanzawa H., Identification of a novel gene, LDOC1, down-regulated in cancer cell lines., Cancer. Lett., 1999,140, 227-234 10.1016/S0304-3835(99)00087-7Search in Google Scholar

[8] Nagasaki K., Schem C., von Kaisenberg C., Biallek M., Rösel F., Jonat W., Maass N., Leucine-zipper protein, LDOC1, inhibits NF-kappaB activation and sensitizes pancreatic cancer cells to apoptosis, Int. J. Cancer., 2003, 105,454-458 10.1002/ijc.11122Search in Google Scholar PubMed

[9] Inoue M, Takahashi K., Niide O., LDOC1, a novel MZF-1-interacting protein, induces apoptosis, FEBS Lett., 2005,579,604-608 10.1016/j.febslet.2004.12.030Search in Google Scholar PubMed

[10] Mizutani K., Koike D., Suetsugu S., Takenawa T.,WAVE3 functions as a negative regulator of LDOC1, J Biochem., 2005, 138,639-646 10.1093/jb/mvi160Search in Google Scholar PubMed

Received: 2014-4-2
Accepted: 2014-5-22
Published Online: 2015-3-11

©2015 Michele Salemi et al.

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

Downloaded on 29.2.2024 from
Scroll to top button