The Role of Growth Factors and Their Receptors in Genetic Disorders

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Background

With the advent of next-generation technologies, a large number of genetic diseases have been characterized with the causative genes and gene modifiers. Different developmental anomalies arise as a result of genetic alterations in growth factor genes and their receptors, disrupting downstream pathways that cause clinical manifestations. For instance, the disturbances in pituitary development during the embryonic stages cause skeletal anomalies resulting from the disruption of IGF-I and its downstream interactions. Similarly, the FGF-FGFR ligand-receptor interactions are instrumental in skeletal development, particularly in axial and craniofacial development and in tissue repair mechanisms. Through the RAS/MAP kinase, PI3/AKT, and PLCγ downstream pathways, the FGF-FGFR signalling cascade impacts proliferation, differentiation, motility, patterning, and organogenesis, and develop numerous developmental abnormalities. Likewise, TGFβ and its receptors are involved in organ-specific signalling proliferation and differentiation. They are implicated as causative genes and modifiers in several genetic diseases and disorders including Marfan syndrome, Loeys-Dietz syndrome, Sjögren syndrome, Prader–Willi syndrome, and cystic fibrosis. During prenatal development, and even in some cases in neonatal development, genetic alterations and their encoded mutant proteins induce the aberrant glycosylation on membrane-bound growth factor receptors and their ligands, and perturb the phosphorylation-based downstream signalling in the intracellular domain of cell surface receptors.

Such perturbed crosstalk between glycosylation and constitutive phosphorylation are decisive in the phenotypical expression of a wide spectrum of clinical manifestations in hereditary disorders that can be diagnosed by screening concomitant causative genes and modifiers including the growth factor receptors, their encoded proteins, ligands, and posttranslational modifications.

In this Research Topic, we welcome clinical and molecular studies devoted to the aforementioned facets in genetic disorders. These include:

-Original articles that identify the role of growth factor receptors and their ligands.

-Screening of potential inhibitors as therapeutics for rare genetic diseases.

-Oligogenic phenomena involving signaling effectors.

-Experimental models to study genetic disorders with an underlying signaling defect.

-Review articles, case reports and opinions are also welcome.

Keywords: growth factors, receptors, genetic diseases

Important note: All contributions to this Research Topic must be within the scope of the section and journal to which they are submitted, as defined in their mission statements. Frontiers reserves the right to guide an out-of-scope manuscript to a more suitable section or journal at any stage of peer review.

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