Peer-reviewed veterinary case report
New NPC2 Gene Mutation Found in Cats with Niemann-Pick Disease
By Tofazzal Md Rakib et al.·Published in Animals·2023·Laboratory of Clinical Pathology, Joint Faculty of Veterinary Medicine, Kagoshima University, Korimoto, Kagoshima 890-0065, Japan, CH·View original on DOAJ →
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Original publication title: Novel Mutation in the Feline <i>NPC2</i> Gene in Cats with Niemann–Pick Disease
- Species:
- cat
Plain-English summary
A Siamese cat and a Japanese domestic cat were diagnosed with Niemann-Pick disease, a genetic disorder that causes harmful substances to build up in cells. Genetic testing revealed a specific mutation in the NPC2 gene in both cats, with the Siamese cat having two copies of the mutation and the Japanese domestic cat having one copy. This mutation is linked to the disease and is the second known case in cats from Japan. Unfortunately, Niemann-Pick disease can lead to serious health issues, and treatment options are limited, so it's important for owners of affected breeds to be aware of this condition.
People also search for: Siamese cat Niemann-Pick disease · cat genetic disorders · NPC2 gene mutation in cats
Abstract
Niemann–Pick disease (NP) type C is an autosomal, recessive, and inherited neurovisceral genetic disorder characterized by the accumulation of unesterified cholesterol and glycolipids in cellular lysosomes and late endosomes, with a wide spectrum of clinical phenotypes. This study aimed to determine the molecular genetic alterations in two cases of felines with NP in Japan, a Siamese cat in 1989 and a Japanese domestic (JD) cat in 1998. Sanger sequencing was performed on 25 exons of the feline <i>NPC1</i> gene and 4 exons of the feline <i>NPC2</i> gene, using genomic DNA extracted from paraffin-embedded tissue specimens. The sequenced exons were compared with reference sequences retrieved from the GenBank database. The identified mutations and alterations were then analyzed using different prediction algorithms. No pathogenic mutations were found in feline <i>NPC1</i>; however, c.376G>A (p.V126M) was identified as a pathogenic mutation in the <i>NPC2</i> gene. The Siamese cat was found to be homozygous for this mutation. The JD cat was heterozygous for the same mutation, but no other exonic <i>NPC2</i> mutation was found. Furthermore, the JD cat had a homozygous splice variant (c.364-4C>T) in the <i>NPC2</i> gene, which is not known to be associated with this disease. The <i>NPC2</i>:c.376G>A (p.V126M) mutation is the second reported pathogenic mutation in the feline <i>NPC2</i> gene that may be present in the Japanese cat population.
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Search related cases →Original publication on DOAJ: https://doi.org/10.3390/ani13111744