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Human Molecular Genetics Advance Access published online on September 14, 2004
Human Molecular Genetics, doi:10.1093/hmg/ddh293
© 2004 by Oxford University Press
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Article

Reduced KIAA0471 mRNA expression in Alzheimer's patients: a new candidate gene product linked to the disease?

Lluïsa de Yebra 1*, Rosa Adroer 2, Nuria de Gregorio-Rocasolano 3, Rafael Blesa 4, Ramon Trullas 3, and Nicole Mahy 2

1 Unitat de Bioquímica, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Facultat de Medicina, Universitat de Barcelona, C/ Casanova 143, E-08036 Barcelona, Spain
2 Unitat de Bioquímica, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Facultat de Medicina, Universitat de Barcelona, C/ Casanova 143, 08036 Barcelona, Spain
3 Unitat de Neurobiologia, Institut d'Investigacions Biomèdiques de Barcelona, CSIC, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), C/ Rosselló 161, 08036 Barcelona, Spain
4 Servei de Neurologia, Hospital de la Santa Creu i Sant Pau, C/St. Antoni M. Claret 167, 08025 Barcelona, Spain

* To whom correspondence should be addressed. E-mail: lluisadeyebra{at}ub.edu.


  Abstract

Alzheimer's disease phenotype complexity raises the question whether genetic features remain unknown. Although a few percentage of patients are familial cases linked to mutations in amyloid precursor protein, presenilin 1 or presenilin 2 genes, the remainder are considered mainly sporadic late-onset cases with a complex etiology. However, changes in gene expression or other genetic features of the individual can clearly contribute to develop the illness. Consequently, in this paper we focused on the identification of new genes which expression is altered in Alzheimer's disease. We used the technique of differential display reverse transcriptase-polymerase chain reaction (DDRT-PCR) in order to study gene expression differences in brain tissue from patients in an advanced stage of Alzheimer's disease. After studying medial septum and hippocampus brain areas, we found an inhibition of the KIAA0471 gene expression in 3 out of 6 Alzheimer's disease patients, inclusive one with a presenilin 1 gene mutation. This gene encodes for a large protein that presents, in its predicted form, 95% homology with IDN4-GGTR sequences. These results may provide significant clues for understanding the molecular mechanisms underlying septohipocampal neurodegeneration. In addition, they may open a new area of research for diagnostic and therapeutic tools which relevance is considered in discussion.


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