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Related Concept Videos

Animal Mitochondrial Genetics02:59

Animal Mitochondrial Genetics

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Among all the organelles in an animal cell, only mitochondria have their own independent genomes. Animal mitochondrial DNA is a double-stranded, closed-circular molecule with around 20,000 base pairs. Mitochondrial DNA is unique in that one of its two strands, the heavy, or H, -strand is guanine rich, whereas the complementary strand is cytosine rich and called the light, or L, -strand. Compared to nuclear DNA, mitochondrial DNA has a very low percentage of non-coding regions and is marked by...
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Renal Phenotype in Mitochondrial Diseases: A Multicenter Study.

Maria Parasyri1, Per Brandström1,2, Johanna Uusimaa3,4

  • 1Department of Paediatrics, Region Västra Götaland, Sahlgrenska University Hospital, Gothenburg, Sweden.

Kidney Diseases (Basel, Switzerland)
|May 9, 2022
PubMed
Summary

Mitochondrial diseases often present with kidney problems, including chronic kidney disease and acute kidney injury. These renal issues, particularly acute kidney injury and tubulopathy, are linked to poorer survival outcomes in patients with mitochondrial disease.

Keywords:
Acute kidney injuryMitochondrial DNAMitochondrial diseaseRenal manifestations

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Area of Science:

  • Nephrology
  • Genetics
  • Internal Medicine

Background:

  • Mitochondrial diseases are a group of inherited disorders affecting cellular energy production.
  • Renal manifestations are increasingly recognized as a significant feature of mitochondrial diseases.
  • Early identification and monitoring of kidney involvement are crucial for patient management.

Purpose of the Study:

  • To investigate the associations between renal and extrarenal manifestations in mitochondrial diseases.
  • To understand the natural history of renal disease in these patients.
  • To identify predictors of renal disease severity and overall patient outcomes.
  • To develop a protocol for presymptomatic assessment and monitoring of renal function.

Main Methods:

  • A multicenter, retrospective cohort study was conducted by the Mitochondrial Clinical and Research Network (MCRN).
  • Included were patients of any age with genetically verified mitochondrial disease and renal manifestations from 8 European centers.
  • Data were collected on renal and extrarenal symptoms, disease progression, and outcomes.

Main Results:

  • Two-thirds of the 36 included patients had mitochondrial DNA-associated disease.
  • Renal manifestations were the initial sign in 19% of patients and detected by lab tests in 57%.
  • Chronic kidney disease (stage 2+) was the most common (75%), followed by tubulopathy (44.4%).
  • Acute kidney injury occurred in 19% and was often the first sign of renal disease.
  • Acute kidney injury and tubulopathy correlated with worse survival.
  • Renal imaging showed increased echogenicity and dysplasia/hypoplasia; histology revealed FSGS, nephrocalcinosis, and nephronophthisis.

Conclusions:

  • Acute kidney injury represents a distinct renal phenotype in mitochondrial disease.
  • Recognizing renal disease is vital for identifying underlying mitochondrial disorders.
  • Acute kidney injury and tubulopathy are significant indicators of poor survival in mitochondrial diseases.