Postmortem Analyses in a Patient With Succinic Semialdehyde Dehydrogenase Deficiency (SSADHD): II. Histological, Lipid, and Gene Expression Outcomes in Regional Brain Tissue.
GABA
GABA receptors
brain lipids
gene expression profiles
glutamate receptors
succinic semialdehyde dehydrogenase deficiency
Journal
Journal of child neurology
ISSN: 1708-8283
Titre abrégé: J Child Neurol
Pays: United States
ID NLM: 8606714
Informations de publication
Date de publication:
11 2021
11 2021
Historique:
pubmed:
10
2
2021
medline:
15
3
2022
entrez:
9
2
2021
Statut:
ppublish
Résumé
This study has extended previous metabolic measures in postmortem tissues (frontal and parietal lobes, pons, cerebellum, hippocampus, and cerebral cortex) obtained from a 37-year-old male patient with succinic semialdehyde dehydrogenase deficiency (SSADHD) who expired from SUDEP (sudden unexplained death in epilepsy). Histopathologic characterization of fixed cortex and hippocampus revealed mild to moderate astrogliosis, especially in white matter. Analysis of total phospholipid mass in all sections of the patient revealed a 61% increase in cortex and 51% decrease in hippocampus as compared to (n = 2-4) approximately age-matched controls. Examination of mass and molar composition of major phospholipid classes showed decreases in phospholipids enriched in myelin, such as phosphatidylserine, sphingomyelin, and ethanolamine plasmalogen. Evaluation of gene expression (RT
Identifiants
pubmed: 33557678
doi: 10.1177/0883073820987742
pmc: PMC8349921
mid: NIHMS1657396
doi:
Substances chimiques
Lipids
0
Succinate-Semialdehyde Dehydrogenase
EC 1.2.1.24
Types de publication
Case Reports
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
1177-1188Subventions
Organisme : NICHD NIH HHS
ID : R01 HD091142
Pays : United States
Organisme : NINDS NIH HHS
ID : R13 NS116963
Pays : United States
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