AI Article Synopsis
- Primary mitochondrial disorders (PMDs) are rare and complex conditions resulting from faults in the mitochondrial respiratory chain, leading to significant clinical variability among patients.
- Studying these disorders is challenging due to low statistical power in single-center studies and the wide range of symptoms even among individuals with identical genotypes.
- Recent years have seen significant progress through multicenter research efforts and the establishment of national and international registries for mitochondrial patients, enhancing our understanding of PMDs and paving the way for future developments.
Article Abstract
Primary mitochondrial disorders (PMDs) are an extraordinarily complex group of rare disorders caused by impairment of the mitochondrial electron transport chain, or respiratory chain. Studying genotype-phenotype relationships in PMDs is a complex task. The clinical variability is large even in individuals with the same genotype, and the statistical power is low in single-center studies because of their rarity. To better define the clinical phenotypes associated with PMDs, in the last 15 years a significant multicenter effort has led to nation-wide studies on large cohorts of patients. Many national registries of mitochondrial patients have been developed in recent years, and now there is a strong effort towards international (and even global) registries. This review will revise the notable advances obtained with such studies in recent years, and will discuss the actual developments and future perspectives.
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| http://dx.doi.org/10.1016/j.expneurol.2024.115073 | DOI Listing |
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