Decreased telomere length in children with cartilage-hair hypoplasia

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http://hdl.handle.net/10138/311364

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Kostjukovits , S , Degerman , S , Pekkinen , M , Klemetti , P , Landfors , M , Roos , G , Taskinen , M & Makitie , O 2017 , ' Decreased telomere length in children with cartilage-hair hypoplasia ' , Journal of Medical Genetics , vol. 54 , no. 5 , pp. 365-370 . https://doi.org/10.1136/jmedgenet-2016-104279

Title: Decreased telomere length in children with cartilage-hair hypoplasia
Author: Kostjukovits, Svetlana; Degerman, Sofie; Pekkinen, Minna; Klemetti, Paula; Landfors, Mattias; Roos, Goran; Taskinen, Mervi; Makitie, Outi
Contributor organization: Clinicum
Children's Hospital
University of Helsinki
Lastentautien yksikkö
HUS Children and Adolescents
HUS Comprehensive Cancer Center
Date: 2017-05
Language: eng
Number of pages: 6
Belongs to series: Journal of Medical Genetics
ISSN: 0022-2593
DOI: https://doi.org/10.1136/jmedgenet-2016-104279
URI: http://hdl.handle.net/10138/311364
Abstract: Background Cartilage-hair hypoplasia (CHH) is an autosomal recessive chondrodysplasia caused by RMRP (RNA component of mitochondrial RNA processing endoribonuclease) gene mutations. Manifestations include short stature, variable immunodeficiency, anaemia and increased risk of malignancies, all of which have been described also in telomere biology disorders. RMRP interacts with the telomerase RT (TERT) subunit, but the influence of RMRP mutations on telomere length is unknown. We measured relative telomere length (RTL) in patients with CHH, their first-degree relatives and healthy controls and correlated RTL with clinical and laboratory features. Methods The study cohort included 48 patients with CHH with homozygous (n=36) or compound heterozygous RMRP mutations (median age 38.2 years, range 6.0-70.8 years), 86 relatives (74 with a heterozygous RMRP mutation) and 94 unrelated healthy controls. We extracted DNA from peripheral blood, sequenced the RMRP gene and measured RTL by qPCR. Results Compared with age-matched and sex-matched healthy controls, median RTL was significantly shorter in patients with CHH (n=40 pairs, 1.05 vs 1.21, p=0.017), but not in mutation carriers (n=48 pairs, 1.16 vs 1.10, p=0.224). RTL correlated significantly with age in RMRP mutation carriers (r=-0.482, p <0.001) and non-carriers (r=-0.498, p Conclusions Telomere length was decreased in children with CHH. We found no correlation between RTL and clinical or laboratory parameters.
Subject: EPSTEIN-BARR-VIRUS
DYSKERATOSIS-CONGENITA
ANDROGEN THERAPY
RNASE-MRP
CANCER
MUTATIONS
DISEASE
LYMPHOCYTES
CARCINOMA
FAMILIES
1184 Genetics, developmental biology, physiology
Peer reviewed: Yes
Rights: cc_by_nc
Usage restriction: openAccess
Self-archived version: acceptedVersion


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