AI Article Synopsis
- Negative regulator of reactive oxygen species (NRROS) is a protein linked to microglia and macrophages, with 9 reported cases of individuals having biallelic variants.
- One case details a severe neurodegenerative condition associated with two novel NRROS variants, one causing an amino acid change and another creating a premature stop codon.
- Pathological findings highlighted significant grey and white matter damage, dystrophic calcifications, foamy macrophage infiltration, and the first instance of mitochondrial abnormalities seen in NRROS-related post-mortem tissue.
Article Abstract
Negative regulator of reactive oxygen species (NRROS) is a leucine-rich repeat protein expressed by microglia and perivascular macrophages. To date, 9 individuals have been reported with biallelic NRROS variants. Here, we report one individual with a severe neurodegenerative phenotype in which exome sequencing identified 2 novel variants in NRROS, a missense variant (c.185T>C, p.Leu62Pro) and a premature stop codon (c.310C>T, p.Gln104Ter). Pathological examination revealed both extensive grey and white matter involvement, dystrophic calcifications, and infiltration of foamy macrophages. This is the first reported case of NRROS variants with a mitochondrial ultrastructure abnormality noted on electron microscopy analysis of post-mortem tissue.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9289721 | PMC |
| http://dx.doi.org/10.1007/s10048-022-00683-8 | DOI Listing |
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