Murine succinate semialdehyde dehydrogenase deficiency

2003 ◽  
Vol 54 (S6) ◽  
pp. S81-S90 ◽  
Author(s):  
Maneesh Gupta ◽  
Boris M. Hogema ◽  
Markus Grompe ◽  
Teodoro G. Bottiglieri ◽  
Alessandra Concas ◽  
...  
Keyword(s):  
Dehydrogenase Deficiency ◽  
Semialdehyde Dehydrogenase ◽  
Succinate Semialdehyde

Expression profiling reveals multiple myelin alterations in murine succinate semialdehyde dehydrogenase deficiency

2006 ◽  
Vol 29 (1) ◽  
pp. 143-156 ◽  
Author(s):  
Elizabeth A. Donarum ◽  
Dietrich A. Stephan ◽  
Kay Larkin ◽  
Eric J. Murphy ◽  
Maneesh Gupta ◽  
...  
Keyword(s):  
Expression Profiling ◽  
Dehydrogenase Deficiency ◽  
Semialdehyde Dehydrogenase ◽  
Succinate Semialdehyde

Prenatal diagnosis of succinate semialdehyde dehydrogenase deficiency in non-identical twins

2002 ◽  
Vol 25 (6) ◽  
pp. 517-518 ◽  
Author(s):  
I. A. Aligianis ◽  
P. A. Farndon ◽  
R. G. F. Gray ◽  
S. K. Heath ◽  
M. Kilby ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Dehydrogenase Deficiency ◽  
Identical Twins ◽  
Semialdehyde Dehydrogenase ◽  
Succinate Semialdehyde

Succinate semialdehyde dehydrogenase deficiency does not down-regulate γ-hydroxybutyric acid binding sites in the mouse brain

2006 ◽  
Vol 88 (1) ◽  
pp. 86-89 ◽  
Author(s):  
Ashok K. Mehta ◽  
Georgianna G. Gould ◽  
Maneesh Gupta ◽  
Lawrence P. Carter ◽  
K. Michael Gibson ◽  
...  
Keyword(s):  
Mouse Brain ◽  
Binding Sites ◽  
Dehydrogenase Deficiency ◽  
Hydroxybutyric Acid ◽  
Semialdehyde Dehydrogenase ◽  
Succinate Semialdehyde

scholarly journals Liver-Directed Adenoviral Gene Transfer in Murine Succinate Semialdehyde Dehydrogenase Deficiency

2004 ◽  
Vol 9 (4) ◽  
pp. 527-539 ◽  
Author(s):  
Maneesh Gupta ◽  
Erwin E.W Jansen ◽  
Henry Senephansiri ◽  
Cornelis Jakobs ◽  
O.Carter Snead ◽  
...  
Keyword(s):  
Gene Transfer ◽  
Dehydrogenase Deficiency ◽  
Adenoviral Gene Transfer ◽  
Semialdehyde Dehydrogenase ◽  
Succinate Semialdehyde

scholarly journals Postmortem Analyses in a Patient With Succinic Semialdehyde Dehydrogenase Deficiency (SSADHD): II. Histological, Lipid, and Gene Expression Outcomes in Regional Brain Tissue

2021 ◽  
pp. 088307382098774
Author(s):  
Dana C. Walters ◽  
Regan Lawrence ◽  
Trevor Kirby ◽  
Jared T. Ahrendsen ◽  
Matthew P. Anderson ◽  
...  
Keyword(s):  
Gene Expression ◽  
Dehydrogenase Deficiency ◽  
Metabotropic Glutamate Receptor ◽  
Total Phospholipid ◽  
Null Mouse ◽  
Succinic Semialdehyde ◽  
Long Term Effects ◽  
Succinic Semialdehyde Dehydrogenase ◽  
Semialdehyde Dehydrogenase ◽  
Succinic Semialdehyde Dehydrogenase Deficiency

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 (RT2 Profiler PCR Arrays, GABA, glutamate; Qiagen) revealed dysregulation in 14/15 GABAA receptor subunits in cerebellum, parietal, and frontal lobes with the most significant downregulation in ∊, θ, ρ1, and ρ2 subunits (7.7-9.9-fold). GABAB receptor subunits were largely unaffected, as were ionotropic glutamate receptors. The metabotropic glutamate receptor 6 was consistently downregulated (maximum 5.9-fold) as was the neurotransmitter transporter (GABA), member 13 (maximum 7.3-fold). For other genes, consistent dysregulation was seen for interleukin 1β (maximum downregulation 9.9-fold) and synuclein α (maximal upregulation 6.5-fold). Our data provide unique insight into SSADHD brain function, confirming astrogliosis and lipid abnormalities previously observed in the null mouse model while highlighting long-term effects on GABAergic/glutamatergic gene expression in this disorder.

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