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Loss-of-Function NUBPL Mutation May Link Parkinson's Disease to Recessive Complex I Deficiency.

Peggy S Eis¹, Neng Huang², J William Langston³

¹Population Bio, Inc., New York, NY, United States.

Frontiers in Neurology

|November 23, 2020

Summary

Parkinson's disease (PD) risk may be linked to mutations in the nucleotide binding protein-like (NUBPL) gene. This gene is associated with mitochondrial Complex I deficiency, a factor in PD pathogenesis.

Keywords:

Ind1 NUBPL Parkinson's disease complex I deficiency copy number variant genetic risk mitochondrial dysfunction nucleotide binding protein-like

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Area of Science:

Genetics
Neuroscience
Mitochondrial Biology

Background:

Mitochondrial dysfunction, particularly decreased Complex I (CI) activity, is implicated in Parkinson's disease (PD) pathogenesis.
Mutations in the nucleotide binding protein-like (NUBPL) gene are known to cause autosomal recessive (AR) mitochondrial CI deficiency in children.

Purpose of the Study:

To investigate the potential role of NUBPL gene variants in Parkinson's disease risk.
To explore the link between NUBPL mutations, mitochondrial dysfunction, and PD.

Main Methods:

Genome-wide screening for copy number variants (CNVs) in a cohort of PD patients.
Detailed analysis of chromosomal rearrangements involving the NUBPL gene.
Comparison of identified breakpoints with those in patients with known NUBPL-related mitochondrial disorders.

Main Results:

A complex chromosomal rearrangement involving the NUBPL gene was identified in a PD patient.
The breakpoints of this rearrangement were identical to those found in a patient with AR CI deficiency and a second pathogenic NUBPL mutation.
This suggests a potential shared genetic mechanism between NUBPL mutations and PD.

Conclusions:

Pathogenic NUBPL variants may represent a risk factor for developing Parkinson's disease.
This finding supports the hypothesis that mitochondrial dysfunction contributes to PD.
Further research into NUBPL's role in PD pathogenesis is warranted, analogous to GBA gene variants.