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Mevalonate kinase deficiency: current perspectives.

Leslie A Favier1, Grant S Schulert1

  • 1Division of Rheumatology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.

The Application of Clinical Genetics
|August 9, 2016
PubMed
Summary
This summary is machine-generated.

Mevalonate kinase deficiency (MKD) is a genetic disorder causing recurrent inflammation. Mutations affect enzyme activity, impacting protein prenylation and immune system activation, leading to diverse symptoms and guiding new biologic therapies.

Keywords:
autoinflammatoryhyperimmunoglobulinemia D and periodic fever syndromemevalonic aciduriaperiodic fever syndrome

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Area of Science:

  • Genetics and Immunology
  • Autoinflammatory Diseases

Background:

  • Mevalonate kinase deficiency (MKD) is a rare, inherited autoinflammatory disorder.
  • It presents with varied clinical phenotypes, including hyperimmunoglobulinemia D and periodic fever syndrome, and mevalonic aciduria.
  • MKD is characterized by recurrent inflammatory attacks affecting multiple systems.

Purpose of the Study:

  • To review the current understanding of MKD's genetic basis and pathology.
  • To outline the diverse clinical manifestations of the disorder.
  • To discuss the evolving treatment strategies, focusing on cytokine-directed therapies.

Main Methods:

  • Literature review of genetic and pathological studies on MKD.
  • Analysis of clinical phenotypes associated with MKD.
  • Examination of current and emerging treatment approaches.

Main Results:

  • MKD results from mutations in the mevalonate kinase gene, with residual enzyme activity correlating to disease severity.
  • The deficiency impairs nonsterol isoprenoid biosynthesis, crucial for protein prenylation.
  • Evidence suggests impaired protein prenylation activates the innate immune system, causing hyperinflammation.

Conclusions:

  • MKD is a complex autoinflammatory disorder with significant genetic and clinical variability.
  • Understanding the link between protein prenylation deficiency and immune activation is key to pathogenesis.
  • Biologic therapies targeting cytokine pathways represent a promising treatment direction for MKD.