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Mice lacking the mitochondrial exonuclease MGME1 develop inflammatory kidney disease with glomerular dysfunction.

Dusanka Milenkovic¹, Adrián Sanz-Moreno², Julia Calzada-Wack²

¹Max Planck Institute for Biology of Ageing, Cologne, Germany.

|May 9, 2022

Summary

Mitochondrial genome and maintenance exonuclease 1 (MGME1) loss causes new mtDNA fragments and impairs replication. Mgme1 knockout mice develop age-related multisystem disease, including kidney inflammation and nephropathy.

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Area of Science:

Mitochondrial biology
Genetics
Pathophysiology

Background:

Mitochondrial DNA (mtDNA) maintenance disorders arise from nuclear gene mutations, causing varied syndromes.
Loss-of-function mutations in MGME1 lead to mtDNA deletions/depletion, resulting in adult-onset multisystem mitochondrial disease.

Purpose of the Study:

To investigate the in vivo function of MGME1.
To characterize the pathophysiology of MGME1-associated mitochondrial disease using a knockout mouse model.

Main Methods:

Extensive phenotyping of aging Mgme1 knockout mice.
Analysis of de novo formation and degradation of linear deleted mtDNA fragments.
Assessment of age-related phenotypes including weight, vision, and kidney function.

Main Results:

Loss of MGME1 causes de novo formation and degradation of linear deleted mtDNA fragments.
MGME1 is critical for completing mtDNA replication, not degrading linear fragments.
Mgme1 knockout mice exhibit progressive weight loss, cataracts, retinopathy, and severe chronic progressive nephropathy with kidney inflammation.

Conclusions:

Defective mtDNA replication due to MGME1 deficiency triggers an immune response.
This immune response contributes to age-associated kidney pathology, linking faulty mtDNA synthesis to inflammatory disease.