The Genetic Background of Abnormalities in Metabolic Pathways of Phosphoinositides and Their Linkage with the Myotubular Myopathies, Neurodegenerative Disorders, and Carcinogenesis

Biomolecules. 2023 Oct 19;13(10):1550. doi: 10.3390/biom13101550.

Abstract

Myo-inositol belongs to one of the sugar alcohol groups known as cyclitols. Phosphatidylinositols are one of the derivatives of Myo-inositol, and constitute important mediators in many intracellular processes such as cell growth, cell differentiation, receptor recycling, cytoskeletal organization, and membrane fusion. They also have even more functions that are essential for cell survival. Mutations in genes encoding phosphatidylinositols and their derivatives can lead to many disorders. This review aims to perform an in-depth analysis of these connections. Many authors emphasize the significant influence of phosphatidylinositols and phosphatidylinositols' phosphates in the pathogenesis of myotubular myopathies, neurodegenerative disorders, carcinogenesis, and other less frequently observed diseases. In our review, we have focused on three of the most often mentioned groups of disorders. Inositols are the topic of many studies, and yet, there are no clear results of successful clinical trials. Analysis of the available literature gives promising results and shows that further research is still needed.

Keywords: X-linked myotubular myopathy; carcinogenesis; myo-inositol; myotubular myopathy; neurodegenerative disorders; phosphatidylinositol; phosphatidylinositol phosphate; phosphoinositides.

Publication types

  • Review

MeSH terms

  • Carcinogenesis / genetics
  • Genetic Background
  • Humans
  • Inositol / metabolism
  • Metabolic Networks and Pathways
  • Myopathies, Structural, Congenital* / genetics
  • Myopathies, Structural, Congenital* / pathology
  • Neurodegenerative Diseases* / genetics
  • Phosphatidylinositol Phosphates / metabolism
  • Phosphatidylinositols / metabolism

Substances

  • Phosphatidylinositols
  • Inositol
  • Phosphatidylinositol Phosphates

Grants and funding

This research received no external funding.