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Biosynthesis of Nucleic Acids01:28

Biosynthesis of Nucleic Acids

Nucleic acid biosynthesis is a fundamental biochemical process that produces the purine and pyrimidine nucleotides essential for DNA and RNA synthesis. This pathway maintains a balanced nucleotide pool, preventing imbalances that could jeopardize genetic integrity and cellular function. Given the crucial role of nucleotides, their synthesis is tightly regulated to ensure proper cellular homeostasis.Purine BiosynthesisThe biosynthesis of purine nucleotides begins with ribose-5-phosphate, a...

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Metabolic Alterations in NADSYN1-Deficient Cells.

Nils W F Meijer1, Johan Gerrits1, Susan Zwakenberg2

  • 1Department of Genetics, Section Metabolic Diagnostics, University Medical Center Utrecht, Lundlaan 6, 3584 EA Utrecht, The Netherlands.

Metabolites
|December 22, 2023
PubMed
Summary
This summary is machine-generated.

NAD synthetase 1 (NADSYN1) deficiency impairs nicotinamide adenine dinucleotide (NAD+) biosynthesis, causing significant metabolic changes. This study reveals how NADSYN1 deficiency impacts key cellular pathways even with alternative NAD+ precursors.

Keywords:
NAD+ deficiencyNAD+ salvage pathwayNADSYN1Preiss–Handler pathwayde novo NAD+ synthesis pathwayglycolysismetabolomicspentose phosphate pathwaypolyol pathway

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Area of Science:

  • Biochemistry
  • Metabolomics
  • Genetics

Background:

  • NAD synthetase 1 (NADSYN1) is crucial for nicotinamide adenine dinucleotide (NAD+) biosynthesis.
  • NADSYN1 deficiency is recognized as a cause of congenital NAD+ deficiency disorders.
  • Understanding the metabolic impact of NADSYN1 deficiency is essential for clinical insights.

Purpose of the Study:

  • To investigate the metabolic consequences of NADSYN1 deficiency.
  • To profile the metabolome in NADSYN1-deficient cells under varying NAD+ precursor conditions.
  • To elucidate the impact on glycolysis, TCA cycle, pentose phosphate, and polyol pathways.

Main Methods:

  • Gene disruption of NADSYN1 in A549 and HEK293T cell lines.
  • Metabolome profiling using various NAD+ precursors (tryptophan, nicotinamide, nicotinic acid).
  • Comparative analysis of metabolite alterations in deficient versus wild-type cells.

Main Results:

  • NADSYN1 deficiency leads to decreased intracellular NAD+ levels, especially when nicotinamide is limited.
  • Significant alterations in 122 metabolites (A549) and 69 metabolites (HEK293T) were observed.
  • Metabolic phenotype includes dysregulation of glycolysis, TCA cycle, pentose phosphate pathway, and polyol pathway.

Conclusions:

  • NADSYN1 deficiency profoundly impacts cellular metabolism beyond just NAD+ levels.
  • The study highlights the critical role of NADSYN1 in maintaining metabolic homeostasis.
  • Findings provide a foundation for understanding the pathophysiology of NADSYN1-related disorders.