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MMRN2 and Parkinson disease

The current evidence for the association between MMRN2 and Parkinson disease is limited. Exome sequencing in a Sardinian cohort of 100 unrelated Parkinson disease patients identified rare, moderately rare variants in MMRN2 that were observed in at least five patients (PMID:25294124). In addition, a genome‑wide association study including 799 Parkinson disease patients further nominated MMRN2 among candidate genes for disease heterogeneity (PMID:38072719). A representative candidate variant reported is c.123A>T (p.Lys41Asn), which illustrates the type of coding alteration identified in these patients.

Supporting functional evidence comes from a bioinformatics study assessing the effects of mutations in the binding domain of CD93, where MMRN2 was confirmed as a ligand and demonstrated a plausible biological interaction (PMID:36353214). Although the genetic data do not yet reach genome‑wide significance and robust familial segregation data remain limited, the convergent genetic and functional findings suggest that MMRN2 is a promising candidate for further investigation in Parkinson disease. Key take‑home: MMRN2 represents a candidate gene with limited but promising evidence, warranting additional studies to support its clinical utility in the diagnostic assessment of Parkinson disease.

References

  • Neurogenetics • 2015 • An exome study of Parkinson's disease in Sardinia, a Mediterranean genetic isolate PMID:25294124
  • Parkinsonism & related disorders • 2024 • Genetics of Parkinson's disease heterogeneity: A genome-wide association study of clinical subtypes PMID:38072719
  • Frontiers in bioinformatics • 2022 • Bioinformatics Approaches to Predict Mutation Effects in the Binding Site of the Proangiogenic Molecule CD93 PMID:36353214

Evidence Based Scoring (AI generated)

Gene–Disease Association

Limited

MMRN2 has been nominated as a candidate gene for Parkinson disease based on rare variant identification in an exome study involving 100 PD patients (PMID:25294124) and supporting GWAS data from 799 PD patients (PMID:38072719), although no variant reached genome-wide significance.

Genetic Evidence

Limited

Genetic evidence includes the identification of candidate rare variants, such as c.123A>T (p.Lys41Asn), with minimal segregation information, highlighting the need for further familial studies.

Functional Evidence

Moderate

Functional studies demonstrating the interaction between MMRN2 and CD93 provide a plausible mechanism for its involvement in disease etiology, warranting further disease-specific validation (PMID:36353214).