In a study conducted by Ph.D Ludwine Messiaen, the professor of genetics at the University of Alabama at Birmingham, says that there has been progress made to help aid those suffering from the genetic disease neurofibromatosis type 1, or NF1, reports UAB News. More specifically, they discovered that mutations occurring in five codons (in the NF1 gene) are a major factor when identifying symptoms for NF1.
People affected by the condition show a higher chance of developing benign tumors and those often become present in the peripheral nerves, spinal cord, and optic nerve. They also lead to skeletal deformities. Additionally, these individuals (specifically with NF1) are at higher risk of acquiring cancer in comparison to others affected by other types of neurofibromatosis. NF1 is one of the more common conditions of the rare family. It occurs in 1 of 2,000-3,000 newborns and the variety of symptoms are intense and abundant.
The researchers are narrowing down the causes of these symptoms in hopes to find a strategy or treatment. Right now they know that the NF1 gene holds about 3,000 mutations, and there needs to be a focus on the mutations specifically found in codons 844-848. While the actual function of these NF1 codons are still unknown, they do know that these mutations cause failed communication, which causes the gene to produce the wrong amino acid. Right now the researchers are linking these mutations to NF1 symptoms; this connection is known as a genotype-phenotype correlation.
This correlation is significant, as it may help identify the intensity of the condition earlier on in the patient. Usually, patients develop signs around puberty that are telling of the condition: benign skin/optic tumors, freckles near skin folds, nodules in eyes, heart defects, and mental and physical developmental delays. Researchers believe it’s important to be able to identify what symptoms the patient will eventually be facing, and while they may not always be able to treat them, they can prepare the patient and their family as thoroughly as possible.
Currently there is only a small percentage of those affected by the condition in which researchers have successfully identified a genotype-phenotype correlation. Yet, that 5-10% brings hope that they are just moments away from more discoveries that will help a grander scale of patients. This is just the beginning of this valuable research path.