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. 2019 Jun 1;104(6):2057-2066.
doi: 10.1210/jc.2018-00957.

Height as a Clinical Biomarker of Disease Burden in Adult Mitochondrial Disease

Rachel L Boal  1 , Yi Shiau Ng  2 , Sarah J Pickett  2 , Andrew M Schaefer  2 , Catherine Feeney  2 , Alexandra Bright  2 , Robert W Taylor  2 , Doug M Turnbull  2 , Grainne S Gorman  2 , Tim Cheetham  1   3 , Robert McFarland  2
Affiliations

Height as a Clinical Biomarker of Disease Burden in Adult Mitochondrial Disease

Rachel L Boal et al. J Clin Endocrinol Metab. .

Abstract

Context: 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.

Objective: To determine whether patients with genetically confirmed mitochondrial disease are shorter than their peers and whether stature is related to disease severity.

Design: Analysis of final adult height in relation to disease severity as determined by the Newcastle Mitochondrial Disease Adult Scale (NMDAS).

Setting: UK Mitochondrial Disease Patient Cohort (Mito Cohort).

Patients: 575 patients were identified with recorded height, weight, and molecular genetic diagnosis of mitochondrial disease within the Mito Cohort.

Main outcome measures: Adult height, body mass index (BMI), and their association with genetic subgroup and disease severity.

Results: 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).

Conclusion: Final height in mitochondrial disease reflects disease severity and rate of disease progression. Mitochondrial dysfunction and associated subclinical comorbidities affect growth plate physiology.

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Figures

Figure 1.
Figure 1.
Individual boxplots of height SD and BMI SD for genotypes. Boxplots showing the median, first quartile, third quartile, and range for (a) height SD and (b) BMI SD for the cohort and each genotype.
Figure 2.
Figure 2.
Individual boxplots of height SD against NMDAS score. Boxplots showing the median, first quartile, third quartile, and range for height SD (a) all cohort and (b) m.3243A>G against NMDAS score. All cohort n = 533, and m.3243A>G n = 222.
See this image and copyright information in PMC

References

    1. Gorman GS, Schaefer AM, Ng Y, Gomez N, Blakely EL, Alston CL, Feeney C, Horvath R, Yu-Wai-Man P, Chinnery PF, Taylor RW, Turnbull DM, McFarland R. Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease. Ann Neurol. 2015;77(5):753–759. - PMC - PubMed
    1. Gorman GS, Chinnery PF, DiMauro S, Hirano M, Koga Y, McFarland R, Suomalainen A, Thorburn DR, Zeviani M, Turnbull DM. Mitochondrial diseases. Nat Rev Dis Primers. 2016;2:16080. - PubMed
    1. Calvo SE, Clauser KR, Mootha VK. MitoCarta2.0: an updated inventory of mammalian mitochondrial proteins. Nucleic Acids Res. 2016;44(D1):D1251–D1257. - PMC - PubMed
    1. Schaefer AM, Phoenix C, Elson JL, McFarland R, Chinnery PF, Turnbull DM. Mitochondrial disease in adults: a scale to monitor progression and treatment. Neurology. 2006;66(12):1932–1934. - PubMed
    1. Mackie EJ, Tatarczuch L, Mirams M. The skeleton: a multi-functional complex organ: the growth plate chondrocyte and endochondral ossification. J Endocrinol. 2011;211(2):109–121. - PubMed

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