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[Mitochondrial diseases].

Florentine Radelfahr¹, Thomas Klopstock²

¹Friedrich-Baur-Institut an der Neurologischen Klinik und Poliklinik, Klinikum der Universität München, Ziemssenstr. 1, 80336, München, Deutschland. florentine.radelfahr@med.uni-muenchen.de.

|January 16, 2019

Summary

This summary is machine-generated.

Mitochondrial diseases (MD) stem from genetic mutations, affecting high-energy tissues. Current treatments focus on managing symptoms and supporting mitochondrial function, with gene therapy in early development.

Keywords:

CPEO Leber’s hereditary optic neuropathy MELAS Mitochondrial neurogastrointestinal encephalomyopathy Neurogenetics

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Area of Science:

Biochemistry
Genetics
Neurology

Background:

Mitochondrial diseases (MD) result from mutations in mitochondrial or nuclear DNA.
Clinical severity often correlates with tissue energy demand.
Common examples include Leber's hereditary optic neuropathy (LHON), CPEO, and MELAS.

Purpose of the Study:

To provide an introduction to mitochondrial diseases.
To summarize key mitochondrial disease syndromes.
To overview established and novel therapeutic strategies.

Main Methods:

Literature review of established and emerging treatments for MD.
Summary of common MD syndromes and their characteristics.
Discussion of gene therapy advancements.

Main Results:

MDs present with varied clinical manifestations, particularly in high-energy tissues.
Therapeutic strategies encompass respiratory chain support, metabolic stimulation, factor supplementation, and symptomatic care.
Gene therapy represents a promising causal treatment avenue, with initial clinical trials underway.

Conclusions:

Mitochondrial diseases require multifaceted treatment approaches.
Innovative therapies, including gene therapy, offer future potential for causal treatment.
Continued research is vital for understanding and managing these complex genetic disorders.