Screening for mutations in selected miRNA genes in hypogonadotropic hypogonadism patients

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http://hdl.handle.net/10138/303542

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Iivonen , A-P , Känsäkoski , J , Vaaralahti , K & Raivio , T 2019 , ' Screening for mutations in selected miRNA genes in hypogonadotropic hypogonadism patients ' , Endocrine Connections , vol. 8 , no. 5 , pp. 506-509 . https://doi.org/10.1530/EC-19-0080

Title: Screening for mutations in selected miRNA genes in hypogonadotropic hypogonadism patients
Author: Iivonen, Anna-Pauliina; Känsäkoski, Johanna; Vaaralahti, Kirsi; Raivio, Taneli
Other contributor: University of Helsinki, Raivio Group
University of Helsinki, Raivio Group
University of Helsinki, Raivio Group
University of Helsinki, Department of Physiology







Date: 2019-05
Language: eng
Number of pages: 4
Belongs to series: Endocrine Connections
ISSN: 2049-3614
DOI: https://doi.org/10.1530/EC-19-0080
URI: http://hdl.handle.net/10138/303542
Abstract: In approximately half of congenital hypogonadotropic hypogonadism (cHH) patients, the genetic cause remains unidentified. Since the lack of certain miRNAs in animal models has led to cHH, we sequenced human miRNAs predicted to regulate cHH-related genes (MIR7-3, MIR141, MIR429 and MIR200A-C) in 24 cHH patients with Sanger sequencing. A heterozygous variant in MIR200A (rs202051309; general population frequency of 0.02) was found in one patient. Our results suggest that mutations in the studied miRNAs are unlikely causes of cHH. However, the complex interplay between miRNAs and their target genes in these diseases requires further investigations.
Subject: microRNA
mutation
hypogonadotropic hypogonadism
Kallmann syndrome
MICRORNAS
FAMILY
ATLAS
3111 Biomedicine
1184 Genetics, developmental biology, physiology
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