Download Full Text (2.7 MB)
The purpose of this research is to synthesize the history of Fragile X Syndrome through literature-based research in order to assess the scope of research, population variation, social impact, and treatment. Fragile X was first documented in 1943 by Dr. Julia Bell and Dr. James Purdon Martin in a report of a family case study in which eleven males across two generations showed symptoms of intellectual disabilities. Fragile X Syndrome is an X-linked disorder caused by mutation in the Fragile X mental retardation 1(FMR1) gene on chromosome Xq27.3. The FMR1 mutations are triplet repeat expansion of the CGG repeat sequences in the 5′ untranslated region of the gene, causing hypermethylation of the repeat sequence and the FMR1 promoter. This leads to inactivation of the promoter and loss of the Fragile X mental retardation protein (FMRP) expression. Because of its X-linked inheritance pattern, males have a higher chance of acquiring this disease than females, with a 1 in 3600 chance and 1 in 6000 chance, respectively. Recent studies attribute FMRP deficiency to neurogenesis changes, lowered glial cell production, and glutamate signaling alteration. Treatment is limited to focusing on managing associated symptoms. Current research emphasizes developing functional therapeutic approaches for treatment. Psychotherapy and various psychotropic medications are applied to target the psychiatric and cognitive features of the disorder. This timeline highlights the ongoing progression of holistic care for FXS patients, supporting the need for well-rounded intervention, spanning from psychotherapy, drug therapies, and wellness checkups.
Fragile X mental retardation 1 (FMR1); Fragile X Syndrome; X-linked disorder; Fragile X mental retardation protein (FMRP)
Asare, Makeda; Avenido, Isabelle; and Vergonia-Fehlman, Maxene, "An Investigation on The History and Current Research of Fragile X Syndrome" (2021). Undergraduate Research Symposium Posters. 2.