Oral and Poster Abstracts
Oral and Poster Abstracts
Oral and Poster Abstracts
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genome association mapping in cattle became available. These<br />
outst<strong>and</strong>ing bovine genome resources together with the well<br />
characterised relationship between the human <strong>and</strong> cattle genomes<br />
currently facilitate analyses of well known simple diseases as well as<br />
more complex inherited traits in cattle.<br />
411 The Point of View of the Geneticists: Online-based Approach<br />
to the Genetic Diseases of Cattle<br />
I. Tammen, F. Nicholas<br />
Faculty of Veterinary Science, University of Sydney, ReproGen,<br />
Sydney, Australia<br />
The increasing information on inherited diseases in animals can make<br />
it difficult for veterinarians, animal breeders <strong>and</strong> scientist to keep up to<br />
date with emerging inherited disorders. Online Mendelian Inheritance<br />
in Animals (OMIA: http://omia.angis.org.au/) is a database created by<br />
one of us (FWN) to summarise all the available information on<br />
inherited disorders <strong>and</strong> traits in more than 135 animal species (other<br />
than human <strong>and</strong> mouse, which have their own resources). There are<br />
currently 369 entries for cattle, including 37 disorders for which a<br />
molecular explanation (<strong>and</strong> hence DNA testing) is available. The<br />
database contains textual information <strong>and</strong> references, as well as links to<br />
relevant PubMed <strong>and</strong> Gene records at the National Center for<br />
Biotechology Information (NCBI), <strong>and</strong> is cross-referenced with the<br />
equivalent human database OMIM. By providing remote curator<br />
access, the database provides opportunities for experts in the field to<br />
enter additional information.<br />
412 Approach to the Genetic Diseases of a Service Company:<br />
Swissgenetics<br />
A. Pozzatti<br />
Swissgenetics, Zollikofen, Switzerl<strong>and</strong><br />
The following points summarize the monitoring system <strong>and</strong> the<br />
procedures carried out at different levels by the Swissgenetics in order<br />
to avoid the spreading of recessives in cattle population improved by<br />
its sires.<br />
Breeding Organizations:<br />
- Survey <strong>and</strong> analysis of information collected from progeny testing<br />
- Observing the frequency of hereditary defects in the different breeds<br />
<strong>and</strong> reporting<br />
- Keeping a list of the known hereditary defects <strong>and</strong> establishing a<br />
chart of the carrier-bulls for each breed Business<br />
Process Genetics:<br />
- Collecting data from the Breeding Associations<br />
- Checking the male veal calves, before purchase, for hereditary<br />
defects, as far as a test is available<br />
- Keeping a list of the known hereditary defects <strong>and</strong> establishing a<br />
chart of the hereditary defects of Swissgenetics bulls<br />
- Applying for measures<br />
- Converting the measures Business<br />
Process Production:<br />
- Clinical <strong>and</strong> eventually cytogenetic exam of the bulls<br />
- Technical support in keeping the list of hereditary defects<br />
- Up-dating of the documents<br />
413 The so Called Paunch Calf Syndrome in Romagnola Calves<br />
A. Gentile 1 , M. Rossi 1 , C. Droegemueller 2<br />
1<br />
University of Bologna, Veterinary Clinical Department, Bologna,<br />
Italy<br />
2<br />
University of Berne, Institute of Animal Breeding, Bern, Switzerl<strong>and</strong><br />
“Paunch Calf” is the term used to indicate a congenital defect<br />
observed recently in Romagnola <strong>and</strong> Chianina calves.Calves show<br />
enlarged <strong>and</strong> floating abdomen <strong>and</strong> facial deformities characterized<br />
by shortened <strong>and</strong> flattened face <strong>and</strong> in some cases by enlarged head.<br />
A disproportionate shortness of the limbs (rhizomelia) is seldom<br />
observed. More frequent is the presence of cleft palate <strong>and</strong> the lack<br />
of an accessory hoof. At necropsy all animals show marked<br />
subcutaneous oedema, especially in the ventral part of the abdominal<br />
wall. Different quantities of ascitic fluid are constantly present in the<br />
abdominal cavity. Trasudate in pleural <strong>and</strong> pericardial cavity can<br />
also be present. Another characterizing aspect is the moderate to<br />
severe diffuse hepatic fibrosis, associated to the presence of hepatic<br />
cysts, containing serous or reddish fluid.Microscopic examination of<br />
the liver reveals an extensive distortion of lobular architecture with<br />
widespread fibrosis in periportal areas <strong>and</strong> around centrolobular<br />
veins. In some lobules the fibrosis is extended to perisinusoidal<br />
spaces. Cardiac malformations (atrial <strong>and</strong>/or interventricular septal<br />
defect, patent ductus arteriosus) constitute frequent accompanying<br />
findings.<br />
414 Congenital Muscular Dystony in the Belgian Blue Breed<br />
F. Rollin, S. V<strong>and</strong>eputte, H. Guyot, K. Touati, D. Desmecht,<br />
C. Charlier, M. Georges<br />
University of Liege - Faculty of Veterinary Medicine, Liege, Belgium<br />
Over the last decades, two different forms of Congenital Muscular<br />
Dystony (CMD) were observed with an increasing incidence (0.1-<br />
0.2%) in Belgian Blue (BB) calves. CMD1 calves present since birth<br />
various degrees of dysphagia <strong>and</strong> locomotor troubles. In most cases,<br />
they are unable to get up without help. Once st<strong>and</strong>ing up, some<br />
hesitate to move in a voluntary way <strong>and</strong> are quickly tired whereas<br />
others walk with more ease. When they are stimulated or pushed,<br />
they become stiff <strong>and</strong> fall without flexing the legs, like a plank.<br />
When suckling, they show swallowing difficulties associated with a<br />
stertorous cough <strong>and</strong> tachypnoea. They usually die within a few<br />
weeks as a result of recumbency <strong>and</strong> respiratory complications, but a<br />
few calves adapt to their h<strong>and</strong>icap <strong>and</strong> survive in spite of obvious<br />
growth retardation. The first symptoms of CMD2 are generally<br />
detected on the occasion of the C-section, when the calf still is in the<br />
uterus. They consist of severe episodes of myoclonus of long<br />
duration triggered off by tactile or acoustic stimulation. These calves<br />
die within a few hours of birth if fits of apnea are not prevented by<br />
IM diazepam administration. Clinically, CMD2 is clearly<br />
reminiscent of congenital myoclonus described in Hereford cattle.<br />
Genealogical analysis suggested that both CMD1 <strong>and</strong> 2 were<br />
recessive inherited defects. Recently, the genes <strong>and</strong> causative<br />
mutations of these defects were located on the chromosome BTA25<br />
<strong>and</strong> 29, respectively for the CMD1 <strong>and</strong> 2 (Charlier et al., 2008:<br />
http://www.nature.com/ naturegenetics).For CMD1, DNA<br />
sequencing revealed a missense mutation (C1676T) leading to a<br />
R559C substitution in exon 14 of ATP2A1, which encodes a fasttwitch<br />
skeletal-muscle Ca++ ATPase. ATP 2A1 (also known as<br />
SERCA1) is responsible for pumping Ca++ from the cytosol back<br />
into the sarcoplasmic reticulum, thereby inducing muscle relaxation.<br />
The mutation regarding CMD2 concerns SLC6A5 that encodes the<br />
Na+/Cl- dependent glycine transporter (GlyT2), so disrupting<br />
presynaptic uptake of glycine by GlyT2. The corresponding human<br />
disorders for CMD1 <strong>and</strong> 2 are Brody myopathy <strong>and</strong> hyperekplexia,<br />
respectively. All BB A.I. sires were genotyped for both defects <strong>and</strong><br />
it was found that 11.4% were carriers of CMD1, 4.6% of CMD2 <strong>and</strong><br />
0.6% of both.<br />
415 Congenital Pseudo-myotonia in Chianina Cattle<br />
S. Testoni 1 , A. Gentile 2 , P. Boni 3<br />
1<br />
University of Padova, Department of Veterinary Clinical Sciences,<br />
Padova, Italy<br />
2<br />
University of Bologna, Department of Veterinary Clinical Sciences,<br />
Bologna, Italy<br />
3<br />
Bovine Practitioner, Bovine Practitioner, Perugia, Italy<br />
The authors present a new muscle function disorder observed in<br />
genetically related Chianina animals. The main clinical feature is an<br />
exercise-induced muscle contracture. When animals are stimulated<br />
to move faster, the muscles immediately become stiff <strong>and</strong> temporary<br />
“freeze up”, inducing a stiff gait. Scuffing the toe <strong>and</strong> bunny hopping<br />
are other progressive exercise-induced findings in the hind legs,<br />
whereas goose-stepping <strong>and</strong> circumduction (swinging outwards) are<br />
additional alterations in the front legs. Animals also experience<br />
general muscular stiffening when startled, associated with a<br />
retraction of the bulbi <strong>and</strong> prominence of the third eyelid. During the<br />
startle-elicited episodes consciousness is preserved. At a slow pace,<br />
the animals do not show any stiffness, even when walking for a long<br />
time; no sign of weakness is noted. Symptoms are evident since birth<br />
<strong>and</strong> remain practically unchanged for life. Biochemistry usually<br />
shows slightly increased levels of CK, LDH <strong>and</strong> AST. L-Lactate is<br />
practically normal at rest <strong>and</strong> after a crisis-free slow paced walk, but<br />
increases immediately after stronger exercise accompanied by the<br />
Genetics Diseases Workshop 333