Microcephaly, or small brain, is a medical condition involving a smaller-than-normal head which is a frequent neurological symptom encountered in neurodevelopmental disorders. Microcephaly can be present at birth (primary microcephaly hereditary, MCPH), or appear gradually in the first few years of life. People with microcephaly often have an intellectual disability, poor motor function, poor speech, abnormal facial features, seizures, and dwarfism. So far, there is no known cure for microcephaly.
Increasing evidence shows that genetic or environmental insults, including viral infections during pregnancy, cause microcephaly. Recent studies have also implicated that mutations of molecules regulating cellular processes, such as cell cycle and mitotic progression, centriole biogenesis, spindle positioning, transcriptional regulation, transmembrane or intracellular transport, Wnt signaling, and autophagy, as well as DNA repair, affect the brain development and therefore lead to microcephaly. The defect in maintaining the embryonic neural stem cell population is the basis of microcephaly procession. However, how different molecular networks coordinate to guarantee brain development, a fundamental issue for brain function in biological and medical science, and prevent microcephaly needs to be better understood.
This Research Topic welcomes submissions in the form of Original Research, Methods, Case Report, Brief Research Report, Review, and Opinion regarding, but not limited to, the following research aspects:
• Identification and functional characterization of microcephaly-associated genes.
• Deciphering the molecular mechanism of microcephaly-associated genes in regulating neural stem cell maintenance and brain development, and pathological process to neurodevelopmental disorders.
• Modeling microcephaly in vivo (mouse models) and in vitro (organoids).
• Uncover clinical biomarkers of microcephaly, development of inhibitors or new therapeutic methods targeting microcephaly-related disorders.
Microcephaly, or small brain, is a medical condition involving a smaller-than-normal head which is a frequent neurological symptom encountered in neurodevelopmental disorders. Microcephaly can be present at birth (primary microcephaly hereditary, MCPH), or appear gradually in the first few years of life. People with microcephaly often have an intellectual disability, poor motor function, poor speech, abnormal facial features, seizures, and dwarfism. So far, there is no known cure for microcephaly.
Increasing evidence shows that genetic or environmental insults, including viral infections during pregnancy, cause microcephaly. Recent studies have also implicated that mutations of molecules regulating cellular processes, such as cell cycle and mitotic progression, centriole biogenesis, spindle positioning, transcriptional regulation, transmembrane or intracellular transport, Wnt signaling, and autophagy, as well as DNA repair, affect the brain development and therefore lead to microcephaly. The defect in maintaining the embryonic neural stem cell population is the basis of microcephaly procession. However, how different molecular networks coordinate to guarantee brain development, a fundamental issue for brain function in biological and medical science, and prevent microcephaly needs to be better understood.
This Research Topic welcomes submissions in the form of Original Research, Methods, Case Report, Brief Research Report, Review, and Opinion regarding, but not limited to, the following research aspects:
• Identification and functional characterization of microcephaly-associated genes.
• Deciphering the molecular mechanism of microcephaly-associated genes in regulating neural stem cell maintenance and brain development, and pathological process to neurodevelopmental disorders.
• Modeling microcephaly in vivo (mouse models) and in vitro (organoids).
• Uncover clinical biomarkers of microcephaly, development of inhibitors or new therapeutic methods targeting microcephaly-related disorders.