Saccharopine dehydrogenase

Saccharopine dehydrogenase (SDH) is an enzyme that plays a crucial role in the lysine degradation pathway, specifically in the amino acid catabolism process. This enzyme catalyzes the sixth step of the lysine degradation pathway, which involves the conversion of saccharopine into lysine and α-aminoadipic semialdehyde. The activity of saccharopine dehydrogenase is essential for the proper metabolism of lysine, an essential amino acid in humans and many other organisms.

Function

Saccharopine dehydrogenase operates in the mitochondria, where it facilitates the breakdown of lysine, contributing to the production of energy and the synthesis of other compounds necessary for cellular function. The enzyme works by catalyzing the oxidative deamination and hydrolysis of saccharopine, yielding lysine and α-aminoadipic semialdehyde. The latter is further metabolized in the lysine degradation pathway, which is critical for maintaining amino acid balance within the cell.

Genetic and Molecular Basis

The activity of saccharopine dehydrogenase is encoded by the gene LOR in humans. Mutations in this gene can lead to a disruption in lysine degradation, resulting in metabolic disorders such as hyperlysinemia type II, a condition characterized by elevated levels of lysine in the blood. Understanding the genetic and molecular mechanisms underlying SDH activity is crucial for diagnosing and treating such metabolic diseases.

Clinical Significance

Alterations in saccharopine dehydrogenase activity can have significant clinical implications. Deficiencies in this enzyme lead to the accumulation of saccharopine and lysine, which can be toxic at high concentrations. Patients with saccharopine dehydrogenase deficiency may present with symptoms ranging from asymptomatic to severe neurological and developmental issues, depending on the extent of the enzyme deficiency and accumulation of toxic metabolites.

Research and Therapeutic Potential

Research into saccharopine dehydrogenase and its role in lysine metabolism has the potential to uncover novel therapeutic targets for treating metabolic disorders associated with this pathway. Understanding the enzyme's structure, function, and regulation could lead to the development of drugs that modulate its activity, offering new treatment options for patients with lysine metabolism disorders.

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Saccharopine dehydrogenase

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  PDB 1e5l EBI