Abstract
The mutated Cu,Zn-superoxide dismutase gene (SOD1) (E.C. No. 1.15.1.1) is generally recognized as a pathological cause of 20% of the familial form of Amyotrophic Lateral Sclerosis (ALS). However, several pieces of evidence also show that wild-type SOD1, under conditions of cellular stress, is implicated in a significant fraction of sporadic ALS cases, which represent 90% of ALS patients. Herein, we describe an abnormally high level of SOD1 transcript in spinal cord, brain stem and lymphocytes of sporadic ALS patients. Protein expression studies show a similar or lower amount of SOD1 in affected brain areas and lymphocytes, respectively. No differences are found in brain regions (cerebellum and non-motor cerebral cortex) not involved in the ALS neurodegenerative processes. In this report, cell and disease specificity are shown since no mRNA SOD1 increase is observed in sporadic ALS fibroblasts or in lymphocytes of patients affected by Alzheimer's disease. These findings provide new insight and understanding of the pathologic causes of sporadic forms of ALS and allow a possible explanation for the molecular involvement of wild-type SOD1.
| Original language | English |
|---|---|
| Pages (from-to) | 198-203 |
| Number of pages | 6 |
| Journal | Neurobiology of Disease |
| Volume | 39 |
| Issue number | 2 |
| DOIs | |
| Publication status | Published - Aug 2010 |
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Keywords
- Amyotrophic lateral sclerosis
- Brain stem
- Cerebellum
- Fibroblasts
- Lymphocytes
- MRNA
- Non-motor cerebral cortex
- SOD1
- Spinal cord
ASJC Scopus subject areas
- Neurology
Cite this
SOD1 mRNA expression in sporadic amyotrophic lateral sclerosis. / Gagliardi, Stella; Cova, Emanuela; Davin, Annalisa; Guareschi, Stefania; Abel, Kenneth; Alvisi, Elena; Laforenza, Umberto; Ghidoni, Roberta; Cashman, John Richard; Ceroni, Mauro; Cereda, Cristina.
In: Neurobiology of Disease, Vol. 39, No. 2, 08.2010, p. 198-203.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - SOD1 mRNA expression in sporadic amyotrophic lateral sclerosis
AU - Gagliardi, Stella
AU - Cova, Emanuela
AU - Davin, Annalisa
AU - Guareschi, Stefania
AU - Abel, Kenneth
AU - Alvisi, Elena
AU - Laforenza, Umberto
AU - Ghidoni, Roberta
AU - Cashman, John Richard
AU - Ceroni, Mauro
AU - Cereda, Cristina
PY - 2010/8
Y1 - 2010/8
N2 - The mutated Cu,Zn-superoxide dismutase gene (SOD1) (E.C. No. 1.15.1.1) is generally recognized as a pathological cause of 20% of the familial form of Amyotrophic Lateral Sclerosis (ALS). However, several pieces of evidence also show that wild-type SOD1, under conditions of cellular stress, is implicated in a significant fraction of sporadic ALS cases, which represent 90% of ALS patients. Herein, we describe an abnormally high level of SOD1 transcript in spinal cord, brain stem and lymphocytes of sporadic ALS patients. Protein expression studies show a similar or lower amount of SOD1 in affected brain areas and lymphocytes, respectively. No differences are found in brain regions (cerebellum and non-motor cerebral cortex) not involved in the ALS neurodegenerative processes. In this report, cell and disease specificity are shown since no mRNA SOD1 increase is observed in sporadic ALS fibroblasts or in lymphocytes of patients affected by Alzheimer's disease. These findings provide new insight and understanding of the pathologic causes of sporadic forms of ALS and allow a possible explanation for the molecular involvement of wild-type SOD1.
AB - The mutated Cu,Zn-superoxide dismutase gene (SOD1) (E.C. No. 1.15.1.1) is generally recognized as a pathological cause of 20% of the familial form of Amyotrophic Lateral Sclerosis (ALS). However, several pieces of evidence also show that wild-type SOD1, under conditions of cellular stress, is implicated in a significant fraction of sporadic ALS cases, which represent 90% of ALS patients. Herein, we describe an abnormally high level of SOD1 transcript in spinal cord, brain stem and lymphocytes of sporadic ALS patients. Protein expression studies show a similar or lower amount of SOD1 in affected brain areas and lymphocytes, respectively. No differences are found in brain regions (cerebellum and non-motor cerebral cortex) not involved in the ALS neurodegenerative processes. In this report, cell and disease specificity are shown since no mRNA SOD1 increase is observed in sporadic ALS fibroblasts or in lymphocytes of patients affected by Alzheimer's disease. These findings provide new insight and understanding of the pathologic causes of sporadic forms of ALS and allow a possible explanation for the molecular involvement of wild-type SOD1.
KW - Amyotrophic lateral sclerosis
KW - Brain stem
KW - Cerebellum
KW - Fibroblasts
KW - Lymphocytes
KW - MRNA
KW - Non-motor cerebral cortex
KW - SOD1
KW - Spinal cord
UR - http://www.scopus.com/inward/record.url?scp=77953696899&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=77953696899&partnerID=8YFLogxK
U2 - 10.1016/j.nbd.2010.04.008
DO - 10.1016/j.nbd.2010.04.008
M3 - Article
C2 - 20399857
AN - SCOPUS:77953696899
VL - 39
SP - 198
EP - 203
JO - Neurobiology of Disease
JF - Neurobiology of Disease
SN - 0969-9961
IS - 2
ER -