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Molecular landscape of congenital vertebral malformations: recent discoveries and future directions.
Szoszkiewicz, Anna; Bukowska-Olech, Ewelina; Jamsheer, Aleksander.
Afiliación
  • Szoszkiewicz A; Department of Medical Genetics, Poznan University of Medical Sciences, Rokietnicka 8, 60-806, Poznan, Poland. anszoszk@gmail.com.
  • Bukowska-Olech E; Department of Medical Genetics, Poznan University of Medical Sciences, Rokietnicka 8, 60-806, Poznan, Poland.
  • Jamsheer A; Department of Medical Genetics, Poznan University of Medical Sciences, Rokietnicka 8, 60-806, Poznan, Poland. jamsheer@wp.pl.
Orphanet J Rare Dis ; 19(1): 32, 2024 Jan 30.
Article en En | MEDLINE | ID: mdl-38291488
ABSTRACT
Vertebral malformations (VMs) pose a significant global health problem, causing chronic pain and disability. Vertebral defects occur as isolated conditions or within the spectrum of various congenital disorders, such as Klippel-Feil syndrome, congenital scoliosis, spondylocostal dysostosis, sacral agenesis, and neural tube defects. Although both genetic abnormalities and environmental factors can contribute to abnormal vertebral development, our knowledge on molecular mechanisms of numerous VMs is still limited. Furthermore, there is a lack of resource that consolidates the current knowledge in this field. In this pioneering review, we provide a comprehensive analysis of the latest research on the molecular basis of VMs and the association of the VMs-related causative genes with bone developmental signaling pathways. Our study identifies 118 genes linked to VMs, with 98 genes involved in biological pathways crucial for the formation of the vertebral column. Overall, the review summarizes the current knowledge on VM genetics, and provides new insights into potential involvement of biological pathways in VM pathogenesis. We also present an overview of available data regarding the role of epigenetic and environmental factors in VMs. We identify areas where knowledge is lacking, such as precise molecular mechanisms in which specific genes contribute to the development of VMs. Finally, we propose future research avenues that could address knowledge gaps.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Escoliosis / Anomalías Múltiples / Hernia Diafragmática / Síndrome de Klippel-Feil Tipo de estudio: Prognostic_studies Límite: Humans Idioma: En Revista: Orphanet J Rare Dis Asunto de la revista: MEDICINA Año: 2024 Tipo del documento: Article País de afiliación: Polonia Pais de publicación: Reino Unido
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Escoliosis / Anomalías Múltiples / Hernia Diafragmática / Síndrome de Klippel-Feil Tipo de estudio: Prognostic_studies Límite: Humans Idioma: En Revista: Orphanet J Rare Dis Asunto de la revista: MEDICINA Año: 2024 Tipo del documento: Article País de afiliación: Polonia Pais de publicación: Reino Unido