Abstract Details

Title Differentially Expressed microRNA Profile in Skeletal Muscle Tissue of Sporadic ALS Patients

Topic Neuromuscular and Clinical Neurophysiology (EMG)

Presentation(s) S54 - Motor Neuron Disease (4:47 PM-4:58 PM)

Poster/Presentation
Number 008

Background Amyotrophic Lateral Sclerosis (ALS) is a progressive and fatal neuromuscular disorder characterized by muscle weakness and atrophy due to degeneration of the upper and lower motor neurons. Although underlying causes of motor neuron degeneration in ALS have not been elucidated, it has been suggested that skeletal muscle pathology plays a critical role in the onset and/or progression of the disease by activating a retrograde signaling cascade that degrades motor neurons. Recent studies revealed important roles for microRNAs (miRNAs) in skeletal muscle function.

Objective To identify muscle-specific common miRNA profile associated with etiopathogenesis of sporadic ALS (sALS).

Design/Methods

Left biceps muscle biopsy samples of 10 sALS patients were included. The mean age was 42,8 (26-59) years and five of the patients were female. The mean disease duration was 1,3 (0,5-4) years. The mean ALS Functional Ration Score was 38,8 (27-46). As control group, we used 5 left biceps muscle biopsy with normal histopathological findings. Total RNA from sALS patients and control individuals were analyzed for their miRNA expression using Affymetrix GeneChip miRNA 4.0 Array. In order to find out differentially expressed miRNAs in patients, raw data was analyzed by two databases (The Institute for Genomic Research-Multi Experiment Viewer(MeV) and Affymetrix Transcriptome Analysis Console Version 2(TAC 2.0)). In ALS patients, miRNAs whose expression difference were statistically significant (miRNAs increase/decrease by two-fold compared to the control group) were identified as candidates. Then, potential target genes of candidate miRNAs were identified by the miRWalk database and classified by GENEONTOLOGY-Panther Classification System.

Results

Our results revealed that 7 miRNAs were up-regulated in patients that are involved in pathways related to ALS pathogenesis, such as regulation of RNA metabolic process, axonogenesis, synapse organization/signaling, synaptic vesicle transport, glucose response and muscle development.

Conclusions

Identifying muscle-specific miRNA profile associated with sALS will provide additional information on the etiopathogenesis of the disease.

Authors/Disclosures
Evrim Aksu-Menges (Hacettepe University, Medical Biology Dept.) PRESENTER	Ms. Aksu-Menges has nothing to disclose.
Can Ebru Kurt, MD (Hacettepe University)	Can Ebru Kurt, MD has nothing to disclose.
	No disclosure on file
	No disclosure on file
	No disclosure on file
Ersin Tan, MD	Dr. Tan has nothing to disclose.

��ɫ��

��ɫ��