Mitochondrial Disease: Advances in Clinical Diagnosis, Management, Therapeutic Development, and Preventative Strategies
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Purpose of Review
Primary mitochondrial disease encompasses an impressive range of inherited energy deficiency disorders having highly variable molecular etiologies as well as clinical onset, severity, progression, and response to therapies of diverse multi-system manifestations. Significant progress has been made in primary mitochondrial disease diagnostic approaches, clinical management, therapeutic options, and preventative strategies that are tailored to major mitochondrial disease phenotypes and subclasses.
The extensive phenotypic pleiotropy of individual mitochondrial diseases from an organ-based perspective is reviewed. Improved consensus on standards for mitochondrial disease patient care are being complemented by emerging therapies that target specific molecular subtypes of mitochondrial disease. Reproductive counseling options now include pre-implantation genetic diagnosis at the time of in vitro fertilization for familial mutations in nuclear genes and some mtDNA disorders. Mitochondrial replacement technologies have promise for some mtDNA disorders, although practical and societal challenges remain to allow their further research evaluation and clinical utilization.
A dramatic improvement has occurred in recent years in the recognition, understanding, treatment options, and preventative strategies for primary mitochondrial disease.
KeywordsMitochondrial disease Diagnosis Treatment Prevention
Compliance with Ethical Standards
Conflict of Interest
Marni J. Falk reports other from REATA Pharmaceuticals, grants, personal fees and other from Stealth Pharmaceuticals, other from United Mitochondrial Disease Foundation, other from GENESIS, grants and other from Raptor Pharmaceuticals, outside the submitted work. The other authors declare that they have no conflict of interest.
Human and Animal Rights and Informed Consent
This article does not contain any studies with human or animal subjects performed by any of the authors.
Papers of particular interest, published recently, have been highlighted as: • Of importance
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