Creative Biolabs

Fragile X Syndrome Drug Discovery Service

Fragile X syndrome (FXS) is a common inherited intellectual disability second only to Down syndrome with higher incidences in males. It is derived from the abnormal duplication of the CGG triplet of the Fragile X mental retardation 1 gene (FMR1). The excessively long triplet will lead to the silencing of FMR1 and the lack of its products and thus lead to symptoms such as epilepsy, hyperactivity, and mental retardation. Several years of experience have rewarded Creative Biolabs with knowledge and technologies to provide the most reliable and thorough one-stop FXS solution for our clients around the world. If you are currently conceptualizing, improving, validating, or simply need assistance for FXS research, we are more than capable to meet your every demand.

Background and Pathology of FXS

FXS is a dominant genetic disorder that is more common in males. The causative gene FMR1 is located in the Xq27.3 band. Under normal circumstances, FMR1 contains 5-44 CGG sequence repeats, which does not lead to abnormal gene function, and premutation occurs when CGG repeats reach between 55-200. When the number of CGG triplet nucleotide repeats is greater than 200, the gene can be called a complete mutant gene. FMR1 mRNA will hybridize with the CGG repeat part to form an RNA·DNA duplex, and the FMR1 promoter will be methylated. Leads to the silencing of the FMR1 gene and the lack of its product.

Repeat associated non-AUG (RAN) translation in FXS and Fragile X-Associated Tremor/Ataxia Syndrome.Fig 1. Repeat associated non-AUG (RAN) translation in FXS and Fragile X-Associated Tremor/Ataxia Syndrome. (Cabal-Herrera, 2020)

The product of FMR1 expression is Fragile X mental retardation protein (FMRP), which is found throughout the body but is most distributed in the brain and testis. FMRP is important for dendritic maturation and synaptic plasticity, which is directly related to the ability of humans to remember and learn. Many disease manifestations of FXS are directly controlled by the amount of FMRP in the body and form a clinical spectrum. The lower the content of FMRP, the more severe the symptoms.

Diagnosis of FXS

In addition to being directly judged by symptoms, the diagnosis of FXS can also be achieved by the observation of karyotype. An abnormal FMR1 gene causes the distal end of the long arm of the X chromosome to narrow and create a vulnerable locus. At Creative Biolabs, in addition to the characterization and sequencing of the FMR1 gene, several more sensitive and specific molecular services can also be developed to diagnose FXS for further research, such as directly determining the number of CGG repeats and the methylation status of the FMR1 gene by PCR or WB.

Therapeutic targets and FXS physiopathogenesis.Fig 2. Therapeutic targets and FXS physiopathogenesis. (Saldarriaga, 2014)

Intervention of FXS

Research into the etiology of FXS has led to many drug discoveries and research, and as the understanding of the molecular mechanisms of disease in FXS continues to deepen at Creative Biolabs, more targeted and promising therapeutic approaches are being evaluated and more services are being offered. We can observe and detect the secondary features of FXS and the reactivation of gene silencing to determine the potency of drug molecules or the inhibitory ability of vulnerable sites. In addition, we also track metabotropic glutamate (Glu) receptors (mGluR)/γ-aminobutyric acid (GABA), K+ channels, Na+ channels and various neurotransmitters in learning and memory-related pathways that are highly related to FXS To determine the response mechanism and effectiveness of the treatment program.

Services at Creative Biolabs

Advances in FXS knowledge and understanding of pathogenesis over the past few years have led to the development of research into FXS drug design and therapeutic approaches development. Through our advanced technology and knowledge, Creative Biolabs now provides services such as disease model development, abnormal gene identification, and drug development. Many thanks to the efforts of our outstanding R&D team, we offer reliable and comprehensive one-stop FXS solutions including in vitro/in vivo modeling, gene mutation analysis, protein product detection, therapeutic targets, pharmacodynamic and pharmacokinetic assays, and other tests that may be needed to clients around the world. No matter what stage of research you are in, we can develop a corresponding project for you. If you would like to verify drug effects, advance your topical pharmacodynamics research, or have any other needs, please do not hesitate to contact us for more information.


  1. Saldarriaga, W.; et al. Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS): Pathophysiology and Clinical Implications. International Journal of Molecular Sciences. 2020, 20: 4391.
  2. Saldarriaga, W.; et al. Fragile X Syndrome. Colombia Médica. 2014, 45(4): 190-198.
For Research Use Only. Not For Clinical Use.
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