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- Title
Height as a Clinical Biomarker of Disease Burden in Adult Mitochondrial Disease.
- Authors
Boal, Rachel L; Ng, Yi Shiau; Pickett, Sarah; Schaefer, Andrew M; Feeney, Catherine; Bright, Alex; Taylor, Robert W; Turnbull, Doug M; Gorman, Grainne S; Cheetham, Tim; McFarland, Robert; Pickett, Sarah J; Bright, Alexandra
- Abstract
<bold>Context: </bold>Abnormal growth and short stature are observed in patients with mitochondrial disease, but it is unclear whether there is a relationship between final adult height and disease severity.<bold>Objective: </bold>To determine whether patients with genetically confirmed mitochondrial disease are shorter than their peers and whether stature is related to disease severity.<bold>Design: </bold>Analysis of final adult height in relation to disease severity as determined by the Newcastle Mitochondrial Disease Adult Scale (NMDAS).<bold>Setting: </bold>UK Mitochondrial Disease Patient Cohort (Mito Cohort).<bold>Patients: </bold>575 patients were identified with recorded height, weight, and molecular genetic diagnosis of mitochondrial disease within the Mito Cohort.<bold>Main Outcome Measures: </bold>Adult height, body mass index (BMI), and their association with genetic subgroup and disease severity.<bold>Results: </bold>Adults with mitochondrial disease were short, with a mean height of -0.49 SD (95% CI, -0.58 to -0.39; n = 575) compared with UK reference data. Patients were overweight, with a BMI SD of 0.52 (95% CI, 0.37 to 0.67; n = 472). The most common genetic subgroup (m.3243A>G mutation) had a height SD of -0.70 (95% CI, -0.85 to -0.54; n = 234) and a BMI SD of 0.12 (95% CI, -0.10 to 0.34; n = 212). NMDAS scores were negatively correlated with height SD (r = -0.25; 95% CI, -0.33 to -0.17; P < 0.001, n = 533). Rate of disease progression also correlated negatively with adult height (P < 0.001).<bold>Conclusion: </bold>Final height in mitochondrial disease reflects disease severity and rate of disease progression. Mitochondrial dysfunction and associated subclinical comorbidities affect growth plate physiology.
- Publication
Journal of Clinical Endocrinology & Metabolism, 2018, pN.PAG
- ISSN
0021-972X
- Publication type
journal article
- DOI
10.1210/jc.2018-00957