Authors: Jonathan Herring, Kirsten Johnson, and Jörg Richstein
Summary
The European Fragile X Network, which consists of seventeen different national fragile X associations, met in Wroclaw, Poland, November 2021, and agreed to work towards the eradication of the word “retardation” in regard to the naming of the Fragile X gene and protein. Emma describes it best, “For this life-changing experience to be distorted with an outdated and derogatory label such as ‘mental retardation’ is a tragedy.” Having “retarded,” a term that was medically acceptable for what we now call “intellectual disability”, as a part of the Fragile X gene and protein name is highly offensive and inappropriate.
The authors explain the three dangers that can arise with this labeling, including stigmatization and the inaccuracy and/or over-focus that causes the name to be misleading.
The use of the word “retardation” is highly stigmatic. Having that word as part of the names may invoke a range of negative emotions from families and individuals living with Fragile X and it invites potentially bullying or negative assumptions from their peers, medical providers, and members of society.
Including this term in the gene and protein name is misleading because it is inaccurate. All people walk around with the FMR1 gene and FMRP is a necessary protein. While the full understanding of the protein is still being developed, it is already known to assist the brain in making connections between cells through synapses, where communication between cells take place. FMRP is present all over the body, so isolating the description to the brain is inaccurate. The authors write, “This is similar to describing the brain as the dementia organ.”
Including this term in the gene and protein name is also misleading because it is over-focused. While many individuals with Fragile X do have intellectual disabilities, this is not the only symptom, nor the defining characteristic, of these individuals. There are also physical and behavioral symptoms associated with Fragile X. Reducing Fragile X to a single characteristic is over-focused and ignores the other challenges and strengths associated with Fragile X.
Following the release of this opinion piece and conversations with HUGO (Human Gene Organisation) Gene Nomenclature Committee, “mental retardation” has been successfully eradicated from labels describing the genetic development of Fragile X syndrome and Fragile X premutation conditions/disorders. The renamed genes are as follows:
FRAXA: Fragile x site, folic acid type, rare, fra(X) (Q7.3) A
FMR1: Fragile x messenger ribonucleoprotein 1
Since the publication of the article, the Fragile X protein name is also in the process of being updated to remove reference to “mental retardation”. The acronyms for the Fragile X gene, FMR1, and protein, FMRP, will remain the same, but no longer carry the heavy, inaccurate weight of an outdated term.
Why This Matters
Next Steps
Following the change to the FMR1 gene name, the Fragile X protein name will also change formally in July 2022 to Fragile X messenger ribonucleoprotein 1. The new name is approved to circulated in the meantime. We are all hopeful that all future publications and references include the updated terminology.
FOR MORE DETAILS VISIT:
The Use of “Retardation” in FRAXA, FMRP, FMR1 and Other Designations or read the summary article, Eradication of ‘mental retardation’ from language describing Fragile X Conditions, on the Fragile X Society’s website.
Herring J, Johnson K, Richstein J. The Use of “Retardation” in FRAXA, FMRP, FMR1 and Other Designations. Cells. 2022; 11(6):1044. https://doi.org/10.3390/cells11061044
more research results
Optimal Time Lags From Causal Prediction Model Help Stratify and Forecast Nervous System Pathology
Being able to identify and diagnose possible nervous system disorders by detecting gait problems 15 to 20 years before their clinical diagnosis could help advance treatment development and quality of life.
Prodromal Markers of Upper Limb Deficits in FMR1 Premutation Carriers and Quantitative Outcome Measures for Future Clinical Trials in FXTAS
This system could potentially predict FXTAS onset in premutation carriers who are not showing signs of FXTAS on a neurological exam.
A Human Forebrain Organoid Model of Fragile X Syndrome Exhibits Altered Neurogenesis
While there is promise for future treatments, utilizing this iPSC brain organoid model for future treatment development could prove to be successful.
Trajectories of Change in the Behavioral and Health Phenotype of Adolescents and Adults with Fragile X Syndrome and Intellectual Disability: Longitudinal Trends Over a Decade
This study shines a light on the need for better long-term support and care planning for individuals with Fragile X syndrome.
Featured image by Clker-Free-Vector-Images↗ from Pixabay↗