Science of NARS1
What does the NARS1 gene do?
Aminoacyl-tRNA synthetases are enzymes that add amino acids to tRNAs (transfer RNAs) to form proteins
Asparaginyl-tRNA synthetase (NARS1) is the enzyme impacted with either one or two NARS1 gene mutations
The mutation(s) do not allow asparagine (the correct amino acid) to be added to create a functional protein in the cytoplasm (area surrounding the cell nucleus (center)
What happens when the NARS1 gene is mutated?
Functional tRNAs are REQUIRED for making proteins through a multi-step process
Mutations in the NARS1 gene means that individual can not make working proteins
Proteins are necessary for virtually every function in the human body
Our kids display a wide variety of neurodevelopmental symptoms (phenotypes):
A small head (microcephaly), long fingers or toes
Seizures (focal, generalized, infantile spasms, abnormal EEG without seizures)
Trouble or inability to walk on their own (ataxia)
Inability to speak or to only speak a few words
Inability to eat or for the body to process food correctly on its own
This may require a feeding tube
Muscle spasms
Tingling, numbness, and pain in the arms, legs, fingers, and toes (peripheral neuropathy)
Is there a cure?
There is no cure (yet) for NARS1 disease. Families struggle everyday with managing symptoms. For our kids, a variety of physical, speech, and occupational therapies as well as nutritional supplementation, and a variety of drugs are necessary to improve everyday life. Gene therapy is the answer, but getting there requires YOUR help!
Families: Click on the link enroll your child in the Rare-X Registry.
This will allow us to provide insight on NARS1 disease to researchers, doctors and each other to improve awareness and treatment options!
