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.”
- Peripheral neuropathy
As mentioned before, we’re starting with NGLY1 for a number of reasons, including:
- The discovery of this disease involved an incredible partnership between parents of patients (like the Might’s and the Wilsey’s) and the research community. The Might’s and Wilsey’s have been incredible in finding others affected by this NGLY1 and raising awareness for this disease.
- The organization and tenacity the NGLY1 community has demonstrated in order to help Mark2Cure succeed in the beta experiment so that we could progress towards the next phase
- There are incredible researchers studying this disease, and one of them is across the street from Mark2Cure. (FYI- a post-doc position in his lab is available if you want to research this disease.
Visit Mark2Cure and join our mailing list to be the first to know when we launch the campaign for NGLY1!