What the heck is NGLY1 and why is Mark2Cure targeting it in the next campaign?

NGLY1 is the gene encoding for Peptide-N(4)-(N-acetyl-beta-glucosaminyl)asparagine amidase (PNGase) AKA N-glycanase 1.

A deficiency in this enzyme can disrupt protein quality control mechanisms in the cell, which as we’ve seen in the BioGPS Gene-of-the-week on BAG6 is very important. Learn more NGLY1 deficiency from this video created by the Grace Wilsey Foundation:

 
Symptoms of NGLY1 deficiency include:

  • Global developmental delay
  • Movement disorder
  • A lack of tears (alacrima or hypolacrima): While patients have some moisture in their eyes, they have difficulty producing tear drops when crying.
  • Liver dysfunction: Patients present with elevated liver transaminases such as AST, ALT and sometimes AFP. Liver values may trend toward the normal range over time.
  • A smaller head (microcephaly): Patients tend to have a smaller head circumference, this may be relative to body size and/or acquired over time.
  • Diminished reflexes: Some patients do not respond at all or barely respond to reflex tests.
  • (As-yet) unidentified material stored in liver cells: There appears to be something stored in the cytoplasm of liver cells.
  • Seizures: About half of all patients have observable seizures, but many of them are not recognizable to non-experts as seizures. Common seizure types include sudden jerks or startles (myoclonic), drops (atonic) and staring spells (absence). Patient EEGs are often described as “abnormal.”
  • Hypotonia
  • Peripheral neuropathy

 
As mentioned before, we’re starting with NGLY1 for a number of reasons, including:

 
Visit Mark2Cure and join our mailing list to be the first to know when we launch the campaign for NGLY1!


2 Comments

  1. Pam stinchcomb

    I have 2 girls with ngly 1

Leave a Reply

Your email address will not be published. Required fields are marked *