User:BioMCdx/sandbox
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Complex I mitochondrial respiratory chain deficiency, also known as mitochondrial complex I deficiency, is a clinical condition where mitochondrial complex I, an essential protein for energy production in mitochondria, is in shortage.[1] Disorders related to malfunctioning mitochondria are one of the most common genetic disorders where the prevalence is 12.5 out of 100,000, and among those mitochondrial disorders, mitochondrial complex I deficiency is the most common type.[2][3] A distinguishing characteristic of mitochondrial complex I deficiency is that the symptoms are multi-systemic and widely varied as mitochondria are present in every human cell.[4] To be specific, this disease mainly affects the brain, the heart, the muscle, and the eye as those organs require a large energy supply for their functions.[2] In addition, the blood is also affected because excessive metabolites from malfunctioning mitochondria accumulate in it.[5] Although symptoms differ from patient to patient, the impairment of oxidative phosphorylation, the major process for energy production and metabolism, is the basic mechanism of the disease, since mitochondrial complex I is crucial in oxidative phosphorylation.[6][7]
Specifically, mitochondrial complex I deficiency is caused either by the mutation in nuclear DNA (nDNA) or by the mutation in mitochondrial DNA (mtDNA) that encode for the complex I or other assembly factors.[8] By utilizing this characteristic, a diagnosis can be performed with genetic tests.[2] However, since genotype-phenotype is not yet fully understood, enzymatic function tests and metabolite analyses are also integrated for a precise diagnosis.[9] Nevertheless, even with an early, accurate diagnosis, patients cannot be completely cured because there is no treatment for the cause of the disease.[10] Fortunately, medications, dietary interventions, and exercise therapies can be prescribed to deal with diverse symptoms of the disease.[11][12] Apart from this, novel, direct cures for this disease are in a developmental stage, which is gene therapy and mitochondrial replacement therapy.[11][13]
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