Disorders of Mitochondrial Homeostasis, Dynamics, Protein Import, and Quality Control

Lonneke de Boer, Maaike C. De vries, Jan A.M. Smeitink, Werner J.H. Koopman

Research output: Chapter in Book/Report/Conference proceedingChapterAcademicpeer-review

2 Citations (Scopus)


This chapter describes gene mutations and disorders linked to mitochondrial homeostasis, dynamics, protein import, and quality control. Although clinically highly variable, we here functionally categorized these mutations as impacting on mitochondrial biogenesis, mitochondrial morphology/motility (“mitochondrial dynamics”), and mitochondrial degradation (“mitophagy”). These three processes are described in more detail in the Introduction. In addition, several other mutations that affect mitochondrial function are presented. The gene mutations discussed in this chapter are all nuclear DNA (nDNA) mutations. Most patients with mitochondrial disorders present with a multi-system disorder. The organs requiring the most energy, such as the brain, retina, heart, kidney, and skeletal muscle, are most commonly and severely affected. Onset of disease can be at any age and the symptoms are almost always progressive. A definitive diagnosis solely based on clinical signs and symptoms is very unlikely. Whole exome/genome sequencing (WES/WGS) has greatly improved disease diagnosis and often simplified it, although in some cases has also resulted in new diagnostic challenges. Nonetheless, clinical diagnostic criteria, combined with brain imaging, metabolic, biochemical, and other functional tests are still needed. Since specific treatment options are still limited, the management of the described mitochondrial disorders is largely supportive. For diagnosis and treatment, patients should be referred to a specialized center.
Original languageEnglish
Title of host publicationPhysician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases
EditorsNenad Blau, Carlo Dionisi Vici, Carlos R. Ferreira, Christine Vianey-Saban, Clara D. M. van Karnebeek
ISBN (Electronic)9783030677275
ISBN (Print)9783030677268
Publication statusPublished - 21 Feb 2022
Externally publishedYes


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