"This is probably one of the most important discoveries in neuroscience and blindness in the past 15 years," said Dr. Robert Koenekoop, the study's lead author and director of the McGill Ocular Genetics Laboratory at the
Montreal Children's Hospital.
Koenekoop and a team of international scientists say the gene NMNAT1 causes Leber Congenital Amaurosis (LCA), a rare, hereditary eye disease that causes blindness at birth or within the first few months of life.
"Researchers have been looking for the link between NMNAT1 mutations and human disease in the brain or body for many years," Koenekoop said in a press release.
NMNAT1 is one of 18 genes linked to the disease pinpointed so far.
"We can now identify the gene responsible for LCA in 75% of children. We are getting closer to being able to identify all the genes for this form of child blindness and develop effective treatments," he added.
The researchers made the surprising discovery after analyzing the entire genome of 60 infants with LCA, and weeding out the genes already known to be linked to the disease.
"When we discovered the new gene was NMNAT1 we thought it was impossible, because - from bacteria to human - it plays such an important role in life that we believed if you had a mutation on NMNAT1 you would die," Koenekoop said.
NMNAT1 is actually found in every single human cell. It produces an enzyme called NAD, which controls numerous cell reactions. The mutated gene, though, may not be produce enough.
NAD, then, could be the key to treating CLA.
"Because higher levels of NAD have been shown to significantly delay degeneration of neurons, our team's work raises the exciting possibility that giving NAD as a drug in young LCA patients with NMNAT1 mutations may be
a potential therapeutic option to cure blindness in the near future," Koenekoop said.