<abstract xmlns="http://www.w3.org/1999/xhtml"><p>Specific language impairment (SLI) is a psychiatric condition with a complex etiology and a substantial genetic basis that affects children's verbal communication abilities. In this study, we examined the expression of five different human endogenous retrovirus elements (HERVs) in a cohort of 25 children with SLI and 25 healthy children in the control group. Human endogenous retrovirus elements, a diverse group of repetitive DNA sequences, can potentially cause considerable genetic heterogeneity. They had been integrated in the genome of our ancestors throughout evolution and now consist of about 8.0% of the human genome. Several HERV loci are transcribed in various cell types. Their expression in peripheral blood and in the brain is altered in many neurological and psychiatric diseases. To date, HERV expression profiles have never been studied in patients with SLI. This study aimed to elucidate differentially regulated human endogenous retroelements in peripheral blood of children with SLI, in comparison with healthy controls, through quantitative reverse tran-scription-polymerase chain reaction (qRT-PCR) methodology. Our results show that two genes: HERV-K (HLM-2) <italic>gag</italic> and HERV-P <italic>env</italic> were expressed at lower levels in the blood samples from SLI children in comparison with those in the control group.</p></abstract>

Specific language impairment (SLI) is a psychiatric condition with a complex etiology and a substantial genetic basis that affects children's verbal communication abilities. In this study, we examined the expression of five different human endogenous retrovirus elements (HERVs) in a cohort of 25 children with SLI and 25 healthy children in the control group. Human endogenous retrovirus elements, a diverse group of repetitive DNA sequences, can potentially cause considerable genetic heterogeneity. They had been integrated in the genome of our ancestors throughout evolution and now consist of about 8.0% of the human genome. Several HERV loci are transcribed in various cell types. Their expression in peripheral blood and in the brain is altered in many neurological and psychiatric diseases. To date, HERV expression profiles have never been studied in patients with SLI. This study aimed to elucidate differentially regulated human endogenous retroelements in peripheral blood of children with SLI, in comparison with healthy controls, through quantitative reverse tran-scription-polymerase chain reaction (qRT-PCR) methodology. Our results show that two genes: HERV-K (HLM-2) gag and HERV-P env were expressed at lower levels in the blood samples from SLI children in comparison with those in the control group.

Comparative expression analysis of human endogenous retrovirus elements in peripheral blood of children with specific language impairment

Balkan Journal of Medical Genetics

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

Specific language impairment (SLI) is a psychiatric condition with a complex etiology and a substantial genetic basis that affects children's verbal...

Comparative expression analysis of human endogenous retrovirus elements in peripheral blood of children with specific language impairment

Article Category: Original Article

Published Online: Aug 28, 2019

Page range: 49 - 56

DOI: https://doi.org/10.2478/bjmg-2019-0014

Keywords
Blood-based quantitative reverse transcription-polymerase chain reaction (qRT-PCR), Human endogenous retrovirus elements (HERV), expression profiling, Relative quantitation, Specific language impairment (SLI)

© 2019 Minchev DS, Popov NT, Naimov SI, Minkov IN, Vachev TI, published by Sciendo

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

Comparative expression analysis of human endogenous retrovirus elements in peripheral blood of children with specific language impairment

Article Category: Original Article

Published Online: Aug 28, 2019

Page range: 49 - 56

DOI: https://doi.org/10.2478/bjmg-2019-0014

KeywordsBlood-based quantitative reverse transcription-polymerase chain reaction (qRT-PCR), Human endogenous retrovirus elements (HERV), expression profiling, Relative quantitation, Specific language impairment (SLI)

© 2019 Minchev DS, Popov NT, Naimov SI, Minkov IN, Vachev TI, published by Sciendo

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

Keywords
Blood-based quantitative reverse transcription-polymerase chain reaction (qRT-PCR), Human endogenous retrovirus elements (HERV), expression profiling, Relative quantitation, Specific language impairment (SLI)