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Mendelian disorders of PI metabolizing enzymes

Leopoldo Staiano1, Maria Giovanna De Leo1, Maria Persico1

  • 1Telethon Institute of Genetics and Medicine, Pozzuoli (NA), Italy.

Biochimica Et Biophysica Acta
|December 17, 2014
PubMed

Insights

Genetic diseases affecting phosphoinositide metabolism, primarily phosphoinositide phosphatases, cause tissue-specific symptoms. Understanding these disorders reveals insights into phosphoinositide pathways and highlights unmet therapeutic needs.

Area of Science:

  • Biochemistry
  • Genetics
  • Cell Biology

Background:

  • Over twenty genetic diseases linked to phosphoinositide metabolizing enzymes, mainly phosphatases, have been identified.
  • Mutations, typically loss-of-function, lead to tissue-specific diseases despite ubiquitous enzyme expression, with underlying mechanisms poorly understood.

Purpose of the Study:

  • To analyze genetic disorders of phosphoinositide metabolism based on the primary affected tissue.
  • To review current knowledge on phosphoinositide pathways and disease mechanisms.
  • To identify knowledge gaps and the unmet need for treatments for these rare diseases.

Main Methods:

  • Review and analysis of selected genetic disorders affecting phosphoinositide metabolism.
  • Categorization of disorders by affected tissue: nervous system, muscle, kidney, osteoskeletal system, eye, and immune system.
  • Literature synthesis on cellular and molecular pathways governed by phosphoinositides.

Main Results:

  • Disorders are grouped by affected tissues, illustrating diverse clinical manifestations.
  • Insights gained into cellular pathways regulated by phosphoinositides.
  • Significant gaps in understanding disease pathophysiology and developing treatments remain.

Conclusions:

  • Study of phosphoinositide metabolism disorders provides crucial insights into cellular signaling.
  • Further research is needed to elucidate pathophysiological mechanisms and develop therapies for these orphan diseases.
  • Phosphoinositide research remains critical for understanding genetic disease.
Keywords:
Genetic diseaseLowe syndromeOCRLPI kinasePI phosphatasePhosphoinositide

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