Publications by authors named "M Vos-Loohuis"
Article Synopsis
- Hereditary necrotizing myelopathy (HNM) in Kooiker dogs is a genetic condition that leads to ataxia and paralysis, inherited in an autosomal recessive manner, with the underlying genetic defect not yet known.
- The research involved mapping the genetic locus of HNM using genome-wide analysis on affected and unaffected dogs, ultimately identifying a candidate mutation in the IBA57 gene on canine chromosome 14.
- Functional studies demonstrated that the identified mutation (R147W) impairs the gene's capability to support mitochondrial function, which is linked to a similar human condition called multiple mitochondrial dysfunction syndrome 3 (MMDS3).
A juvenile form of paroxysmal dyskinesia segregated in the Markiesje dog breed. Affected pups exhibited clinical signs of a severe tetraparesis, dystonia, cramping and falling over when trying to walk. In most cases, the presentation deteriorated within weeks and elective euthanasia was performed.
View Article and Find Full Text PDFCopper toxicosis is a complex genetic disorder in Labrador retrievers characterized by hepatic copper accumulation eventually leading to liver cirrhosis. The variation of hepatic copper levels in Labrador retrievers has been partly explained by mutations in c.980C>T and c.
View Article and Find Full Text PDFCytochrome P450 (CYP) proteins constitute a large ancient family of oxidative enzymes essential for the efficient elimination of a wide variety of clinically used drugs. Polymorphic variants of human CYP2D6 are associated with the conversion rate and efficacy of several drugs such as antidepressants. Polymorphisms of the canine orthologue CYP2D15 are of interest because these antidepressants are also used in dogs with behavioral problems and the outcome of the treatment is variable.
View Article and Find Full Text PDFBackground: Selective breeding in populations with a limited effective population size may result in a loss of genetic diversity, which can cause an increased concentration of specific disease liability genes. The Dutch Shepherd Dog (DSD) in the Netherlands is an example of such a breed with a small effective population.
Objective: To evaluate the measurement of genetic diversity and multiplex DNA panel screening for implementation in a breeding strategy for the Dutch Shepherd Dog (DSD) and to investigate the clinical relevance of potentially identified mutations in the multiplex DNA panel screening.