Understanding NARS1: A Rare Genetic Disorder
Imagine facing a condition so rare that fewer than 100 people in the world are known to have it — a disorder that can disrupt a child’s ability to walk, talk or even eat.
While there is still much to learn about NARS1, new research and treatments give families hope.
Here’s what experts know about this condition, how it’s diagnosed and what the future may hold for those affected.
What is NARS1?
NARS1, short for asparagine-tRNA synthetase, is a rare genetic disorder that can disrupt the body’s ability to produce proteins.
“When this gene is not functioning well, our body has trouble making proteins. And so it can cause a spectrum of different disorders,” said Kaitlin Batley, an assistant professor of pediatrics and neurology at UT Southwestern Medical Center.
How Does NARS1 Affect the Body?
NARS1 is a genetic disorder that affects the production of proteins in the body. Proteins are essential for various bodily functions, including growth, development, and maintenance of tissues. When the NARS1 gene is not functioning properly, it can lead to a range of disorders, including neurological and developmental problems.
Who Can Be Affected by NARS1?
NARS1-related neurologic disorders can affect anyone, according to the National Library of Medicine. There are fewer than 100 people in the world who are diagnosed with NARS1, according to Batley.
NARS1 can be passed down in two ways: either when both parents carry the gene change (autosomal recessive) or when just one parent has it (autosomal dominant), according to the National Library of Medicine.
Inheritance Patterns of NARS1
To find out if someone in the family is a carrier, doctors first need to know which NARS1 gene changes are present in the family, according to the National Library of Medicine.
If both parents are carriers of the autosomal recessive gene, there is a 25% chance that each child will inherit the disorder, a 50% chance that each child will inherit one normal and one affected gene (making them a carrier), and a 25% chance that each child will inherit two normal genes.
What is the Diagnosis for NARS1?
NARS1 is diagnosed when a person has symptoms that fit the condition and genetic testing shows changes in the NARS1 gene, according to Batley.
Genetic testing is needed to confirm these changes, according to the National Library of Medicine.
Genetic Testing for NARS1
Genetic testing involves analyzing a person’s DNA to identify any changes or mutations in the NARS1 gene. This can be done through a blood test or a cheek swab. If a person is found to have a mutation in the NARS1 gene, it can confirm the diagnosis of NARS1.
What Are the Symptoms of NARS1?
Batley notes that symptoms of NARS1 can vary widely among patients.
Common challenges include microcephaly — smaller heads — unusually long fingers or toes, seizures, difficulty walking, and delays in motor, speech and cognitive milestones.
Symptoms typically begin around six months of age but can appear anytime from birth through early childhood, according to The Human Disease Gene initiative.
Managing the Symptoms of NARS1
There is currently no cure for NARS1, but various treatments can help manage the symptoms. These may include physical therapy to improve mobility, speech therapy to improve communication, and occupational therapy to improve daily living skills.
Is There a Treatment for NARS1?
N-Lorem, a California nonprofit founded by Dr. Stanley Crooke, creates free, personalized genetic treatments for people with ultra-rare diseases.
The organization is developing the first treatment for NARS1, tailored to Marley Mansour, a girl from North Texas with a specific mutation that causes her body to produce both healthy and defective proteins.
The new treatment aims to block the faulty RNA, so only the healthy version works.
Once this treatment is completed and approved by the FDA, it could pave the way for helping other patients with similar genetic conditions.
Future Directions for NARS1 Treatment
Researchers are continuing to study NARS1 and develop new treatments. With advances in genetic technology and personalized medicine, it is hoped that more effective treatments will become available in the future.
Conclusion
NARS1 is a rare genetic disorder that can have a significant impact on a person’s quality of life. While there is currently no cure, researchers are working to develop new treatments and improve our understanding of the condition. With continued advances in genetic technology and personalized medicine, it is hoped that more effective treatments will become available in the future.
Frequently Asked Questions (FAQs)
Q: What is NARS1?
A: NARS1 is a rare genetic disorder that affects the production of proteins in the body.
Q: How is NARS1 diagnosed?
A: NARS1 is diagnosed through genetic testing, which involves analyzing a person’s DNA to identify any changes or mutations in the NARS1 gene.
Q: What are the symptoms of NARS1?
A: Symptoms of NARS1 can vary widely among patients, but common challenges include microcephaly, seizures, difficulty walking, and delays in motor, speech and cognitive milestones.
Q: Is there a treatment for NARS1?
A: There is currently no cure for NARS1, but various treatments can help manage the symptoms. Researchers are also working to develop new treatments, including personalized genetic therapies.
Q: Can NARS1 be passed down to future generations?
A: Yes, NARS1 can be passed down to future generations. If both parents are carriers of the autosomal recessive gene, there is a 25% chance that each child will inherit the disorder.
