Abstract
Background:Nitric oxide (NO) deficiency may occur in mitochondrial disorders (MD) and can contribute to the pathogenesis of the disease. It is difficult and invasive to measure systemic nitric oxide. NO is formed in the lungs and can be detected in expired air. Currently, hand-held fractional exhaled nitric oxide (FeNO) measurement devices are available enabling a fast in-office analysis of this non-invasive test. It was postulated that FeNO levels might be reduced in MD.Methods:Sixteen subjects with definite MD by modified Walker criteria (4 to 30 years of age) and sixteen healthy control subjects of similar age, race and body mass index (BMI) underwent measurement of FeNO in accordance with the American Thoracic Society guidelines.Results:Sixteen patient-control pairs were recruited. The median FeNO level was 6.5 ppm (IQR: 4-9.5) and 10.5 ppm (IQR: 8-20.5) in the MD and control groups, respectively. In 13 pairs (81%), the FeNO levels were lower in the MD cases than in the matched controls (p=0.021). Eleven (69%) cases had very low FeNO levels (≤7ppm) compared to only 1 control (p=0.001). All cases with enzymatic deficiencies in complex I had FeNO ≤7ppm.Conclusions:Single-breath exhaled nitric oxide recordings were decreased in patients with MD. This pilot study suggests that hand-held FeNO measurements could be an attractive non-invasive indicator of MD. In addition, measurement of FeNO could be used as a parameter to monitor therapeutic response in this population.
Highlights
Following initial descriptions, the term “mitochondrial disorder” (MD) arose to describe primary defects in the mitochondrial electron transport chain [1]
Sixteen subjects with a definite diagnosis of mitochondrial disorders (MD) via the modified Walker criteria seen at the University of Texas Mitochondrial Center between September 2012 and January 2013 had exhaled fractional exhaled nitric oxide (FeNO) levels measured
Exhaled FeNO levels were obtained in sixteen non-atopic, non-smoker healthy control subjects matched by gender, ethnicity and age (+/-1 year if less than 18 years old, +/-4 years if 18 years or older)
Summary
The term “mitochondrial disorder” (MD) arose to describe primary defects in the mitochondrial electron transport chain [1]. Persons with MD manifest multi-organ symptoms including epilepsy, intellectual disability, skeletal and cardiac myopathy, diabetes mellitus, sensorineural hearing loss, and renal impairments [2,3]. Adults typically present with welldefined “mitochondrial syndromes” resulting from mitochondrial DNA mutations that are identified. Children with MD are much harder to identify because children are more likely to have nuclear DNA mutations and the “classic” mitochondrial syndromic findings are typically absent [1]. Nitric oxide (NO) deficiency may occur in mitochondrial disorders (MD) and can contribute to the pathogenesis of the disease. It is difficult and invasive to measure systemic nitric oxide. Hand-held fractional exhaled nitric oxide (FeNO) measurement devices are available enabling a fast in-office analysis of this non-invasive test. It was postulated that FeNO levels might be reduced in MD
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