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RESULTS in canine genetic research

Here you will find a short desciption of the results of different projects in different breeds of dogs that have been participating in the canine genetic research program in Finland, and/or other related canine genetic research projects worldwide. 

For reading the original publication, click the title and follow the link.

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Benign familial juvenile epilepsy in Lagotto Romagnolo dogs

So far idiopathic childhood epilepsy with benign outcomes have not been recognized in dogs. Thouhg this type of epilepsy is well-known in humans. 25 Lagotto Romagnolo puppies from 9 different litters in Finland have been examined. Those puppies suffered from complex focal seizures. 3 aduld dogs of the same breed with similar clinical symtpoms have been examined additionally. The onset-age of the seizures have been 5 to 9 weeks, the puppies recovering at week 8-13. Dogs with strong seizures showed symtpoms during the recovery phase such as ataxia and hypermetria though paremters of blood, urin and cerebrospinal fluid were normal.Electromyography, brainsteam potentioals and MRI showed no abnormal findings. An epilptiform activity in the brain could be observed via EEG in 87,5 % of the examined puppies and 67% of the examined aduld dogs. 1 puppy and 1 dog showed lesions of Purkinje cells and vacuolation of axons restricted to the cerebellum (histological finding).Due to the relation of those dogs a autosomal recessive way of inheritance is suggested. This type of epileptic syndromes, with simple or complex focal seizures and lesions in the cerebellum, is a newly recognized form of epielpsy in dogs.

References: Jokinen TS, Metsähonkala L, Bergamasco L, Viitmaa R, Syrjä P, Lohi H, Snellman M, Jeserevics J, Cizinauskas S.
Department of Clinical Veterinary Sciences, University of Helsinki, Finland. tarja.jokinen@helsinki.fi

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Clinical characteristics and inheritance of idiopathic epilepsy in Vizslas


The mecial record, an epilepsy questionaire of 29 Vizslas, diagnosed epilepsy and 74 unaffected siblings, 41 parents have been examined. Idiopathic epilepsy has been diagnosed in those 29 dogs refering to the results of computerized tomography (CT) or magnetic resonance imaging (MRI) scan with cerebrospinal fluid (CSF) analysis, age of seizure onset of < 6 months or > 5 years. Idiopathic epilepsy appeared to be familial in these dogs. 79% of affected Vizslas exhibiting partial onset seizures. The signs of partial onset seizures included a combination of limb tremors, staring, pupillary dilatation, or salivation without loss of consciousness. The estimated segregation frequency was consistent with autosomal recessive inheritance but polygenic inheritance could not be excluded. Inside these families scanning the whole genome in order to find the epilepsy gene/genes is suggested. The authors came to the conclusion that idiopathic epilepsy in Vizslas appears to be primarily a partial onset seizure disorder that may result from an autosomal recessive trait.

Patterson EE, Mickelson JR, Da Y, Roberts MC, McVey AS, O'Brien DP, Johnson GS, Armstrong PJ.
Department of Small Animal Clinical Sciences, University of Minnesota, College of Veterinary Medicine, St Paul, MN 55108, USA.

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Electroencephalography findings in healthy and Finnish Spitz dogs with epilepsy: visual and background quantitative analysis.

In Finland 16 healthy and 15 Finnish Spitz with epilepsy have been examined via EEG under sedation. This article descibes the method and its results as visible differences in the EEG of epileptic Finnish spitz, those who are treated with Phenobarbital and healthy control animals. The authors could identify a region in the brain where epilepsy in this dog breed origins and came to the conclusion that "EEG seems to be a usefool tool in examining epileptic patients."

References: Jeserevics J, Viitmaa R, Cizinauskas S, Sainio K, Jokinen TS, Snellman M, Bellino C, Bergamasco L.
Department of Clinical Veterinary Sciences, University of Helsinki, Helsinki, Finland


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Risk of anal furunculosis in German Shepherd dogs is associated with the major histocompatibility complex.

The anal funrunculosis in dogs shows similarities to the perianal fistulation of Crohn´s disease in humans.
80% of all reported anal furuncolosis in dogs appear in German Shepherds. Therefore a genetic association with disease suseptibility has been suspected. The target of this research project has been to examine the genes of canine major histocompatibility complex immun response. These gene complexes have been examined in 107 affected and 196 control dogs of the U.K. The authors come to the conclusion that there is a clear connection between the homozygocity for the identified gene-cmplex  DLA-DRB1*00101 and anal funruncolosis. A second study in Finnish dogs (German Shepherd) showed identical results. Homogocity is associated with an early disease onset.

References:Kennedy LJ, O'Neill T, House A, Barnes A, Kyöstilä K, Innes J, Fretwell N, Day MJ, Catchpole B, Lohi H, Ollier WE. Centre for Integrated Genomic Medical Research, University of Manchester, Manchester, UK)

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A Single IGF1 Allele Is a Major Determinant of Small Size in Dogs

Dogs body size show more variabilty than any other terrestial vertebrae.
This article descibes the method how the genetic differences in big sized dogs and small sized dogs have been detected. The authors found out that a single-nucleotid polymorphism* on chromosome 15 haplotype can be found in small dogs, but not in big dogs. Therefore the conclusion of this study is that this specific difference in the DNA sequence is playing a major role in the body size of a dog.

References: Nathan B. Sutter,1 Carlos D. Bustamante,2 Kevin Chase,3 Melissa M. Gray,4 Keyan Zhao,5 Lan Zhu,2 Badri Padhukasahasram,2 Eric Karlins,1 Sean Davis,1 Paul G. Jones,6 Pascale Quignon,1 Gary S. Johnson,7 Heidi G. Parker,1 Neale Fretwell,6 Dana S. Mosher,1 Dennis F. Lawler,8 Ebenezer Satyaraj,8 Magnus Nordborg,5 K. Gordon Lark,3 Robert K. Wayne,4 Elaine A. Ostrander1*
* = variation of single bases in the DNA