Authors: Jonathan Herring, Kirsten Johnson, and Jörg Richstein
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 Emma describes it best, “For this life-changing experience to be distorted with an outdated and derogatory label such as ‘mental retardation’ is a tragedy.”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
FMR1 now stands for fragile X messenger ribonucleoprotein 1, removing the reference to “mental retardation” which has long been outdated in common vernacular. At the time of discovery, “mental retardation” was an accepted term for what we now call “intellectual disability”. We know that individuals with Fragile X are more than an intellectual disability, and we are pleased that the new name of the FMR1 gene and protein reflects this.
The European Fragile X Network lead this change, and the change is being adopted by organizations like the CDC in the United States as well. This incredible effort has led to a global shift in the nomenclature for the Fragile X community.
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.