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MSPrecise: A molecular diagnostic test for multiple sclerosis using next generation sequencing.

William H Rounds1, Edward A Salinas2, Tom B Wilks3

  • 1Department of Neurology and Neurotherapeutics, UT Southwestern Medical Center, Dallas, TX, USA.

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|July 15, 2015
PubMed
Summary
This summary is machine-generated.

The MSPrecise diagnostic test accurately identifies relapsing-remitting multiple sclerosis (RRMS) by detecting specific B cell mutations in cerebrospinal fluid. This test shows 84% accuracy in diagnosing RRMS patients.

Keywords:
B cellBiomarkerGeneticsHigh-throughput nucleotide sequencingMultiple sclerosisNeurological disease

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Area of Science:

  • Neurology
  • Immunology
  • Genetics

Background:

  • Cerebrospinal fluid (CSF)-derived B cells in early relapsing-remitting multiple sclerosis (RRMS) patients express a VH4 gene and accumulate specific replacement mutations.
  • These mutations, quantifiable as a score, can identify patients with or likely to develop RRMS.
  • Next-generation sequencing (NGS) efficiently provides the data for this mutation scoring tool.

Purpose of the Study:

  • To evaluate the diagnostic accuracy of MSPrecise, a test designed to detect the RRMS-enriched mutation pattern in CSF B cells.
  • To validate MSPrecise's performance in identifying individuals with RRMS.

Main Methods:

  • CSF cell pellets were collected from cohorts of RRMS and other neurological disease (OND) patients.
  • VH4 gene segments were amplified from CSF B cells.
  • Next-generation sequencing was employed to analyze mutation scores.

Main Results:

  • MSPrecise demonstrated a sensitivity of 75% in the RRMS cohort.
  • The test achieved a specificity of 88% in the OND cohort.
  • The overall accuracy of MSPrecise in identifying current or future RRMS patients was 84%.

Conclusions:

  • MSPrecise shows good performance in identifying RRMS patients.
  • The test is effective regardless of the disease duration in RRMS patients.