Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0002736 (
amyotrophic lateral sclerosis
)
19,048
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Amyotrophic Lateral Sclerosis
(
ALS
) is a neurodegenerative disease that causes compromised function of motor neurons and neuronal death. However, oculomotor neurons are largely spared from disease symptoms. The underlying causes for sporadic
ALS
as well as for the resistance of oculomotor neurons to disease symptoms remain poorly understood. In this bioinformatic-analysis, we compared the gene expression profiles of spinal and oculomotor tissue samples from control individuals and sporadic
ALS
patients. We show that the genes
GAD2
and
GABRE
(involved in GABA signaling), and
CALB1
(involved in intracellular Ca
2+
ion buffering) are downregulated in the spinal tissues of
ALS
patients, but their endogenous levels are higher in oculomotor tissues relative to the spinal tissues. Our results suggest that the downregulation of these genes and processes in spinal tissues are related to sporadic
ALS
disease progression and their upregulation in oculomotor neurons confer upon them resistance to
ALS
symptoms. These results build upon prevailing models of excitotoxicity that are relevant to sporadic
ALS
disease progression and point out unique opportunities for better understanding the progression of neurodegenerative properties associated with sporadic
ALS
.
...
PMID:A Study of Gene Expression Changes in Human Spinal and Oculomotor Neurons; Identifying Potential Links to Sporadic ALS. 3232 53
