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Polymorphisms in mitochondrial ribosomal protein S5 (MRPS5) are associated with leprosy risk in Chinese

Yan Xing1,2, Jun He3, Yan Wen1,2

  • 1Beijing Tropical Medicine Research Institute, Beijing Friendship Hospital, Capital Medical University, Beijing, China.

Plos Neglected Tropical Diseases
|December 28, 2020
PubMed

Insights

A rare genetic variant in mitochondrial ribosomal protein S5 (MRPS5) increases leprosy risk. Lower MRPS5 gene expression in immune cells suggests its role in Mycobacterium leprae infection susceptibility.

Area of Science:

  • Genetics
  • Infectious Diseases
  • Immunology

Background:

  • Leprosy, caused by Mycobacterium leprae (M. leprae), affects approximately 210,000 individuals annually worldwide.
  • Genome-wide association studies have identified modest genetic risk loci, necessitating further investigation into novel genetic factors.
  • Understanding genetic susceptibility is crucial for developing targeted prevention and treatment strategies for leprosy.

Purpose of the Study:

  • To identify novel genetic loci associated with susceptibility to leprosy.
  • To investigate the role of identified genetic variants in the pathogenesis of leprosy.
  • To explore the functional implications of genetic variations on immune response to M. leprae.

Main Methods:

  • Whole exome sequencing was performed on 28 subjects from leprosy-affected families and controls.
  • Candidate variants were validated using SNP genotyping in a case-control cohort of 369 leprosy patients and 270 controls of Chinese descent.
  • Messenger RNA (mRNA) levels of the candidate gene were assessed in peripheral blood mononuclear cells stimulated with M. leprae sonicate.

Main Results:

  • A rare missense variant (rs200730619) in mitochondrial ribosomal protein S5 (MRPS5) was identified as a significant risk factor for leprosy (Padjusted = 0.006, OR = 2.74).
  • The mRNA expression level of MRPS5 was found to be downregulated in peripheral blood mononuclear cells stimulated with M. leprae sonicate.
  • The identified MRPS5 variant was validated in a substantial case-control cohort, confirming its association with leprosy risk.

Conclusions:

  • The study implicates MRPS5 as a potential genetic factor contributing to leprosy pathogenesis.
  • Downregulation of MRPS5 in immune cells suggests a role in the host's response to M. leprae infection.
  • Further research is warranted to elucidate the functional impact of MRPS5 defects on immune cell energy metabolism and M. leprae clearance.

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