Peer-reviewed veterinary case report
Early onset brain disease in Dachshund caused by PPT1 gene mutation
By Sanders, Douglas N et al.·Published in Molecular genetics and metabolism·2010·Mason Eye Institute, United States·View original on PubMed →
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Original publication title: A mutation in canine PPT1 causes early onset neuronal ceroid lipofuscinosis in a Dachshund.
- Species:
- dog
Plain-English summary
A 9-month-old Miniature Dachshund showed signs of a serious brain condition called neuronal ceroid lipofuscinosis (NCL), which included disorientation, weakness, trouble seeing, and changes in behavior. Tests revealed that the dog's brain lacked an important enzyme due to a genetic mutation. Unfortunately, this condition leads to progressive neurodegeneration, and there is currently no cure. The dog's parents carried the same genetic mutation, but many other Dachshunds did not.
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Abstract
The neuronal ceroid lipofuscinoses (NCLs) are lysosomal storage diseases characterized by progressive neurodegeneration and accumulation of autofluorescent storage granules. A 9-month-old Miniature Dachshund presented with NCL-like signs that included disorientation, ataxia, weakness, visual impairment, and behavioral changes. Neurons throughout the CNS contained autofluorescent lysosomal inclusions with granular osmiophilic deposit (GROD) ultrastructure characteristic of classical infantile NCL (INCL). Human INCL is an autosomal recessive disorder that results from mutations in PPT1, a gene that encodes the enzyme palmitoyl protein thioesterase 1 (PPT1; EC 3.1.22). Resequencing of PPT1 from the affected dog revealed that the dog was homozygous for a single nucleotide insertion in exon 8 (PPT1 c.736_737insC), upstream from the His289 active site. Brain tissue from this dog lacked PPT1 activity. The sire and dam of the propositus were heterozygous for the c.736_737insC mutation; whereas, 127 unrelated Dachshunds were homozygous for the wild-type allele. This is the first reported instance of canine NCL caused by a mutation in PPT1.
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Search related cases →Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/20494602/