Affiliations: Laboratory for Neurodegenerative Diseases and
Personalized Medicine, Department of Cell Research and Immunology, The George
S. Wise Faculty of Life Sciences, Tel Aviv University, Tel Aviv. Israel | Hematology Department, Laniado Hospital, Netanya,
Israel
Note: [] Corresponding author: Miguel Weil, Department of Cell Research
and Immunology, The George S. Wise Faculty of Life Sciences, Tel Aviv
University Ramat Aviv 69978, Tel Aviv, Israel. Tel.: +972 3 6406981; Fax: +972
3 6422046; E-mail: miguelw@tauex.tau.ac.il
Abstract: Amyotrophic lateral sclerosis (ALS) is a fatal, neurodegenerative
disorder caused by degeneration of motor neurons. The cause for most cases of
ALS is multi-factorial,this enhances the need to characterize and isolate
specific biomarkers found in biological samples from ALS patients. To this end
we use human mesenchymal stem cells (hMSC) derived from the bone marrow of six
ALS patients (ALS hMSC) and identified two genes, Cytoplasmic FMR Interacting
Protein 2 (CyFIP2) and Retinoblastoma (Rb) Binding Protein 9 (RbBP9) with a
significant decrease in post transcriptional A to I RNA editing compared to
hMSC of healthy individuals. At the transcriptional level we show abnormal
expression of these two genes in ALS hMSC by quantitative real time-PCR
(qRT-PCR) and Western blot suggesting a problem in the regulation of these
genes in ALS. To strengthen this view we tested by qRT-PCR the expression of
these genes in peripheral blood leukocytes (PBL) isolated from blood samples of
17 ALS patients and found that CyFIP2 and RbBP9 levels of expression were
significantly different compared to the levels of expression of these two genes
in 19 normal PBL samples. Altogether we found two novel ALS potential
biomarkers in non-neural tissues from ALS patients that may have direct
diagnostic and therapeutic implications to the disease.
Keywords: ALS biomarkers, CyFIP2, RbBP9, human mesenchymal stem cells, leukocytes
