Mitochondrial Diseases: Hope for the Future

Mitochondrial diseases: expanding the diagnosis in the era of genetic testing

“…Other than the few disorders that can be treated by cofactor/vitamins, the vast majority of mitochondrial diseases remain without satisfactory treatments. An example of the advancement in mitochondrial medicine has been the proliferation of clinical trials [369] . Unfortunately, early results of some of these trials has still not led to FDA approved medications for mitochondrial disease.…”

Mitochondria in human disease

“…The field of human mitochondrial disease has seen remarkable progress during the last decade [1]. Since the discovery of the first pathogenic mutations in human mtDNA in 1988, the disease field has developed at an accelerating pace.…”

“…Since the discovery of the first pathogenic mutations in human mtDNA in 1988, the disease field has developed at an accelerating pace. Today, we know of >250 pathogenic variants in mitochondrial DNA (mtDNA) and mutations in >300 nuclear genes have been shown to cause mitochondrial disease [1,2]. Whole genome and exome sequencing are now routinely used in the diagnosis of mitochondrial disease, and the identified mutations have given profound new insights into disease syndromes and biochemical pathways controlling mitochondrial function [2].…”

“…Several aspects of the molecular machineries controlling mtDNA gene expression are known in great molecular detail [3,4], although much detail still remains to be elucidated. Importantly, the wealth of information on clinical phenotypes, disease pathophysiology and basic molecular mechanisms controlling mitochondrial function have led to the preclinical development of several novel strategies for treatment of mitochondrial diseases that give hope for the future [1].…”

When to think about mitochondrial disease

“…The diagnosis of mitochondrial disease is now much easier with the advances in molecular genetics, but its clinical variability still presents major challenges to the neurologist. The search for better treatments has become a top priority in the field, 15 but the management of an acute crisis with supportive care is crucial.…”