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Figure 3 | Human Genomics

Figure 3

From: Comparative genomics of aldehyde dehydrogenase 5a1 (succinate semialdehyde dehydrogenase) and accumulation of gamma-hydroxybutyrate associated with its deficiency

Figure 3

Proposed scheme highlighting concepts and principles reported in this review. The central box focuses on variation in the ALDH5A1 gene, whether complete loss of activity or partial alteration linked to single nucleotide polymorphism (SNP), splicing variation or other features. The outward arrows reveal the potential results of these nucleic acid alterations, including metabolic findings (altered levels of γ-aminobutyric acid [GABA], γ-hydroxybutyrate [GHB], succinate semialdehyde [SSA] and 4-hydroxy-2-nonenal [4-HNE]), processes (receptor stimulation and/or downregulation, including GABAA receptor [GABAAR], GABAB receptor [GABAB R] and GHB receptor [GHBR]) and other processes (eg oxidative stress, altered bioenergetics and the accumulation of other metabolic toxins whose role in pathophysiology remains to be clarified). Additional abbreviations: HOT, D-2-hydroxyglutarate transhydrogenase; AKR7A2, aldo-keto reductase 7A2; QTL, quantitative trait loci.

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