Height as a Clinical Biomarker of Disease Burden in Adult Mitochondrial Disease.
Journal
The Journal of clinical endocrinology and metabolism
ISSN: 1945-7197
Titre abrégé: J Clin Endocrinol Metab
Pays: United States
ID NLM: 0375362
Informations de publication
Date de publication:
01 06 2019
01 06 2019
Historique:
received:
30
04
2018
accepted:
08
11
2018
pubmed:
14
11
2018
medline:
6
5
2020
entrez:
14
11
2018
Statut:
ppublish
Résumé
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. To determine whether patients with genetically confirmed mitochondrial disease are shorter than their peers and whether stature is related to disease severity. Analysis of final adult height in relation to disease severity as determined by the Newcastle Mitochondrial Disease Adult Scale (NMDAS). UK Mitochondrial Disease Patient Cohort (Mito Cohort). 575 patients were identified with recorded height, weight, and molecular genetic diagnosis of mitochondrial disease within the Mito Cohort. Adult height, body mass index (BMI), and their association with genetic subgroup and disease severity. 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). Final height in mitochondrial disease reflects disease severity and rate of disease progression. Mitochondrial dysfunction and associated subclinical comorbidities affect growth plate physiology.
Identifiants
pubmed: 30423112
pii: 5172267
doi: 10.1210/jc.2018-00957
pmc: PMC6469958
doi:
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
2057-2066Subventions
Organisme : Medical Research Council
ID : MR/K000608/1
Pays : United Kingdom
Organisme : Medical Research Council
ID : MR/L016354/1
Pays : United Kingdom
Organisme : Medical Research Council
ID : G0800674
Pays : United Kingdom
Organisme : Department of Health
ID : CL-2016-01-003
Pays : United Kingdom
Organisme : Wellcome Trust
ID : 204709/Z/16/Z
Pays : United Kingdom
Organisme : Wellcome Trust
Pays : United Kingdom
Organisme : Wellcome Trust
ID : 203105/Z/16/Z
Pays : United Kingdom
Organisme : Biotechnology and Biological Sciences Research Council
ID : L016354
Pays : United Kingdom
Informations de copyright
Copyright © 2019 Endocrine Society.
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