Genome damage in children with classical Ehlers-Danlos syndrome - An in vivo and in vitro study
Aghajanyan A., Fucic A., Tskhovrebova L., Gigani O., Konjevoda P.
European Journal of Medical Genetics
Vol.62, Issue11, Num.103546
Опубликовано: 2019
Тип ресурса: Статья
DOI:10.1016/j.ejmg.2018.09.013
Аннотация:
Ehlers-Danlos syndrome (EDS) is a heritable connective tissue disorder characterized by skin hyperextensibility, abnormal wound healing, and joint hypermobility with prevalence 1:20 000. Its incidence is probably underestimated due to unknown number of subjects having mild symptoms who may have never been diagnosed through entire life time. Classical EDS is characterized by pathogenic variants of genes encoding type V collagen. The biological effects and health risks of patients with EDS exposure to low doses of ionizing radiation is poorly understood. The aim of this study was to investigate biological effect of low doses of ionizing radiation in children with EDS. Background values of chromosome aberrations in children suffering from classical EDS were determined and compared with control subjects. The in vitro experiment was performed by γ-irradiation of blood lymphocytes from EDS patients and healthy subjects at low doses (0.1, 0.2 and 0.3 Gy). Results show a significant increase l
Ключевые слова:
Children; Chromosomes aberration; Ehlers-Danlos syndrome; Low doses ionizing irradiation in vitro
Article; child; chromosome aberration; clinical article; controlled study; Ehlers Danlos syndrome; female; gamma irradiation; genome; human; human cell; in vitro study; in vivo study; lymphocyte; male; radiation dose; adolescent; congenital skin disease; Ehlers Danlos syndrome; genetics; human genome; ionizing radiation; joint instability; pathophysiology; preschool child; radiation induced malformation; radiation response; radiation tolerance; Abnormalities, Radiation-Induced; Adolescent; Child; Child, Preschool; Chromosome Aberrations; Ehlers-Danlos Syndrome; Female; Genome, Human; Humans; Joint Instability; Male; Radiation Dosage; Radiation Tolerance; Radiation, Ionizing; Skin Abnormalities
Язык текста: Английский
ISSN: 1878-0849
Aghajanyan A.
Fucic A.
Tskhovrebova L.
Gigani O.
Konjevoda P.
Агхайанян А.
Фуcиc А.
Цховребова Л.
Гигани О.
Конйевода П.
Genome damage in children with classical Ehlers-Danlos syndrome - An in vivo and in vitro study
Текст визуальный непосредственный
European Journal of Medical Genetics
Elsevier Science Publisher B.V.
Vol.62, Issue11 Num.103546
2019
Статья
Children Chromosomes aberration Ehlers-Danlos syndrome Low doses ionizing irradiation in vitro
Article child chromosome aberration clinical article controlled study Ehlers Danlos syndrome female gamma irradiation genome human human cell in vitro study in vivo study lymphocyte male radiation dose adolescent congenital skin disease Ehlers Danlos syndrome genetics human genome ionizing radiation joint instability pathophysiology preschool child radiation induced malformation radiation response radiation tolerance Abnormalities, Radiation-Induced Adolescent Child Child, Preschool Chromosome Aberrations Ehlers-Danlos Syndrome Female Genome, Human Humans Joint Instability Male Radiation Dosage Radiation Tolerance Radiation, Ionizing Skin Abnormalities
Ehlers-Danlos syndrome (EDS) is a heritable connective tissue disorder characterized by skin hyperextensibility, abnormal wound healing, and joint hypermobility with prevalence 1:20 000. Its incidence is probably underestimated due to unknown number of subjects having mild symptoms who may have never been diagnosed through entire life time. Classical EDS is characterized by pathogenic variants of genes encoding type V collagen. The biological effects and health risks of patients with EDS exposure to low doses of ionizing radiation is poorly understood. The aim of this study was to investigate biological effect of low doses of ionizing radiation in children with EDS. Background values of chromosome aberrations in children suffering from classical EDS were determined and compared with control subjects. The in vitro experiment was performed by γ-irradiation of blood lymphocytes from EDS patients and healthy subjects at low doses (0.1, 0.2 and 0.3 Gy). Results show a significant increase l