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	<title>Hevonen &#8211; LABOGEN</title>
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		<title>(W)FFS gene variant in the Haflinger in Germany</title>
		<link>https://labogen.com/fi/2022/11/15/wffs-gene-variant-in-the-haflinger-in-germany/</link>
		
		<dc:creator><![CDATA[Fabian Keller]]></dc:creator>
		<pubDate>Tue, 15 Nov 2022 16:05:00 +0000</pubDate>
				<category><![CDATA[Hevonen]]></category>
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					<description><![CDATA[(W)FFS gene variant in the Haflinger in Germany WFFS, Warmblood Fragile Foal Syndrome, is a recessive hereditary disease that was initially only described in warmbloods. Classic symptoms are extremely stretchy and brittle, cracked skin, as well as extremely overstretched joints, especially the fetlock joints are affected. Other possible symptoms are incomplete closure of the abdominal [&#8230;]]]></description>
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							<h2 style="box-sizing: inherit;">(W)FFS gene variant in the Haflinger in Germany</h2>
<p>WFFS, Warmblood Fragile Foal Syndrome, is a recessive hereditary disease that was initially only described in warmbloods. Classic symptoms are extremely stretchy and brittle, cracked skin, as well as extremely overstretched joints, especially the fetlock joints are affected. Other possible symptoms are incomplete closure of the abdominal wall, deformation of the spinal column, intracranial hemorrhage and others.<br />Affected foals are not viable and, if they were not already stillborn or died shortly after birth, have to be euthanized due to the poor prognosis.<br />In 2020, various studies were published showing the presence of the WFFS gene variant in various other horse breeds such as the Thoroughbred, the Knabstrupper, the Quarter Horse, the Paint Horse, the Mustang, the Appaloosa and also the Haflinger. The hereditary disease originally known as Warmblood Fragile Foal Syndrome is therefore now also referred to as Fragile Foal Syndrome (FFS).  <br />As part of a study conducted internally at LABOKLIN, the question was to be answered as to what extent the (W)FFS gene variant can also be found in Haflingers in Germany. For this purpose, 448 samples from Haflinger horses from Germany, which were available at LABOKLIN, were analyzed. The genotype N/N (free) was determined for 443 animals; these animals do not carry the gene variant that causes FFS. 5 animals (1.1 %) showed the N/WFFS genotype, i.e. these animals are carriers for the FFS gene variant and can therefore pass it on to their offspring.</p>
<p>The study shows that the FFS gene variant also occurs in Haflinger horses in Germany, but the carrier frequency of 1.1% is significantly lower than in warmbloods, where various studies postulate a carrier frequency of between 12% and 15%. The exact extent to which the German Haflinger breeding population is affected cannot be deduced from this study, as it was not checked whether the animals examined were bred in Germany or imported from abroad.</p>
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		<title>Spread of PSSM in different breeds</title>
		<link>https://labogen.com/fi/2019/08/14/spread-of-pssm-in-different-breeds/</link>
		
		<dc:creator><![CDATA[Fabian Keller]]></dc:creator>
		<pubDate>Wed, 14 Aug 2019 08:27:00 +0000</pubDate>
				<category><![CDATA[Hevonen]]></category>
		<guid isPermaLink="false">https://staging.laboklin.com/labogen/labogen_wp/index.php/2019/08/14/spread-of-pssm-in-different-breeds/</guid>

					<description><![CDATA[Spread of PSSM in different breeds Polysaccharide storage myopathy type 1 is a hereditary disorder of sugar metabolism. The clinical symptoms are &#8221;cross-flap-like&#8221; and cover the entire spectrum from reluctance to move, muscle tremors, muscle stiffness, sweating, alternating lameness to immobility. PSSM is inherited in an autosomal dominant manner.This means that heterozygous carriers (genotype N/PPSM) [&#8230;]]]></description>
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							<h2 style="box-sizing: inherit;">Spread of PSSM in different breeds</h2>
<p style="box-sizing: inherit; margin-bottom: 20px; color: #4c4c4c; font-size: 16px;">Polysaccharide storage myopathy type 1 is a hereditary disorder of sugar metabolism. The clinical symptoms are &#8221;cross-flap-like&#8221; and cover the entire spectrum from reluctance to move, muscle tremors, muscle stiffness, sweating, alternating lameness to immobility. PSSM is inherited in an autosomal dominant manner.<br />This means that heterozygous carriers (genotype N/PPSM) also have an increased risk of developing the disease, while homozygotes (genotype PSSM/PSSM) are more severely affected than heterozygotes. The genetic test can also be used to confirm a suspected diagnosis.<br />The PSSM test was developed at the University of Minnesota and is patented in Europe. Laboklin is the exclusive license holder.<br />PSSM was initially regarded as a disease of Western horses (Quarter Horse, Paint Horse and Appaloosa), but the causative mutation goes back a long way, so that this gene variant occurs in many different horse breeds. In warmblood horses, for example, it has been shown in recent years that approx. 5% of the horses tested were heterozygous carriers (N/PPSM) and just under 1% were homozygous (PSSM/PSSM).</p>
<p style="box-sizing: inherit; margin-bottom: 20px; color: #4c4c4c; font-size: 16px;">In the overall population, the allele frequency is probably somewhat lower in some breeds where the test is not mandatory, as some horses may only have been tested due to clinical suspicion.</p>
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