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Mitochondrial Dysfunction in Glycogen Storage Disorders (GSDs).

Kumudesh Mishra1,2, Or Kakhlon1,2

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Glycogen storage disorders (GSDs) disrupt mitochondrial function, leading to cell metabolic issues and multisystem symptoms. Targeting mitochondrial dysfunction offers promising therapeutic strategies for GSD patients.

Keywords:
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Area of Science:

  • Biochemistry
  • Genetics
  • Cell Biology

Background:

  • Glycogen storage disorders (GSDs) are inherited metabolic conditions affecting glycogen metabolism.
  • Enzyme deficiencies in GSDs impair mitochondrial function, leading to oxidative stress and cell dysfunction.
  • Specific GSD types, like Pompe and Cori disease, exemplify how glycogen accumulation impacts mitochondria.

Purpose of the Study:

  • To review the intricate relationship between mitochondrial dysfunction and various GSDs.
  • To elaborate on the mechanisms linking GSDs to mitochondrial impairment.
  • To discuss challenges and potential therapeutic strategies for GSDs, focusing on mitochondrial health.

Main Methods:

  • Literature review of GSDs and mitochondrial dysfunction.
  • Analysis of biochemical pathways affected in GSDs.
  • Synthesis of current understanding of GSD pathophysiology and therapeutic targets.

Main Results:

  • GSDs cause mitochondrial dysfunction through altered morphology, impaired oxidative phosphorylation, increased ROS, and defective mitophagy.
  • Mitochondrial impairment exacerbates GSD symptoms like hepatomegaly, hypoglycemia, muscle weakness, cardiomyopathy, and neurocognitive deficits.
  • Dysfunctional glycogen metabolism is a key driver of cellular and mitochondrial metabolic derangements in GSDs.

Conclusions:

  • Mitochondrial dysfunction is a critical factor in GSD pathophysiology.
  • Addressing mitochondrial dysfunction presents a promising therapeutic avenue for GSDs.
  • Comprehensive treatment strategies for GSDs should incorporate interventions targeting mitochondrial health.