TY - JOUR
T1 - Differential Expression of miRNAs in Amyotrophic Lateral Sclerosis Patients
AU - Gomes, Bruno Costa
AU - Peixinho, Nuno
AU - Pisco, Rita
AU - Gromicho, Marta
AU - Pronto-Laborinho, Ana Catarina
AU - Rueff, José
AU - de Carvalho, Mamede
AU - Rodrigues, António Sebastião
N1 - Publisher Copyright:
© 2023, The Author(s).
PY - 2023/12
Y1 - 2023/12
N2 - Amyotrophic lateral sclerosis (ALS) is a progressive motor neuron disease that affects nerve cells in the brain and spinal cord, causing loss of muscle control, muscle atrophy and in later stages, death. Diagnosis has an average delay of 1 year after symptoms onset, which impairs early management. The identification of a specific disease biomarker could help decrease the diagnostic delay. MicroRNA (miRNA) expression levels have been proposed as ALS biomarkers, and altered function has been reported in ALS pathogenesis. The aim of this study was to assess the differential expression of plasma miRNAs in ALS patients and two control populations (healthy controls and ALS-mimic disorders). For that, 16 samples from each group were pooled, and then 1008 miRNAs were assessed through reverse transcription-quantitative polymerase chain reaction (RT-qPCR). From these, ten candidate miRNAs were selected and validated in 35 ALS patients, 16 ALS-mimic disorders controls and 15 healthy controls. We also assessed the same miRNAs in two different time points of disease progression. Although we were unable to determine a miRNA signature to use as disease or condition marker, we found that miR-7-2-3p, miR-26a-1-3p, miR-224-5p and miR-206 are good study candidates to understand the pathophysiology of ALS.
AB - Amyotrophic lateral sclerosis (ALS) is a progressive motor neuron disease that affects nerve cells in the brain and spinal cord, causing loss of muscle control, muscle atrophy and in later stages, death. Diagnosis has an average delay of 1 year after symptoms onset, which impairs early management. The identification of a specific disease biomarker could help decrease the diagnostic delay. MicroRNA (miRNA) expression levels have been proposed as ALS biomarkers, and altered function has been reported in ALS pathogenesis. The aim of this study was to assess the differential expression of plasma miRNAs in ALS patients and two control populations (healthy controls and ALS-mimic disorders). For that, 16 samples from each group were pooled, and then 1008 miRNAs were assessed through reverse transcription-quantitative polymerase chain reaction (RT-qPCR). From these, ten candidate miRNAs were selected and validated in 35 ALS patients, 16 ALS-mimic disorders controls and 15 healthy controls. We also assessed the same miRNAs in two different time points of disease progression. Although we were unable to determine a miRNA signature to use as disease or condition marker, we found that miR-7-2-3p, miR-26a-1-3p, miR-224-5p and miR-206 are good study candidates to understand the pathophysiology of ALS.
KW - Amyotrophic lateral sclerosis
KW - Biomarkers
KW - Epigenetics
KW - MicroRNAs
KW - MicroRNAs/genetics
KW - Brain
KW - Humans
KW - Amyotrophic Lateral Sclerosis/genetics
KW - Delayed Diagnosis
KW - Disease Progression
UR - http://www.scopus.com/inward/record.url?scp=85166515372&partnerID=8YFLogxK
U2 - 10.1007/s12035-023-03520-7
DO - 10.1007/s12035-023-03520-7
M3 - Article
C2 - 37531027
AN - SCOPUS:85166515372
SN - 0893-7648
VL - 60
SP - 7104
EP - 7117
JO - Molecular Neurobiology
JF - Molecular Neurobiology
IS - 12
ER -