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The research group led by Professor Magnus Andersson at University of Helsinki has discovered a new inherited disease that causes ptosis, retarded growth, intellectual disability and mortality in Ayrshire calves. The disease proved to be associated with a mutation in UBE3B gene. Of the 129 tested Ayrshire AI bulls recently used in Finland, 17% carried the mutation. Moreover, UBE3B mutation may be connected to AH1 haplotype, which is associated with reduced fertility and has a carrier frequency of 26.1% in the North American Ayrshire population. The study was published in BMC Genomics journal on 12 October 2014.

An inherited disease that causes serious developmental disorder in Ayrshire breed has been studied at the Department of Production Animal Medicine, University of Helsinki. The phenotype has been defined as PIRM syndrome according to its typical features: ptosis, intellectual disability, retarded growth and mortality. The most easily noticeable symptom of affected calves is the ptosis. The exceptionally large upper eye lid gives a characteristic sleepy appearance of the affected animals. Some affected calves also suffered from feeding problems, minor structural changes of the head and muscular hypotonia. The disease is recessively inherited i.e. affected animals have inherited the mutation from both parents

Heredity research traced the disease to a mutation in UBE3B gene, which partially prevents the normal expression of the gene. Mutation screening of the 129 Ayrshire AI bulls that are in use or have recently been used in Finland indicated a high carrier frequency of 17.1%. "The results of this study can be utilized in bovine breeding programs. With the successful prevention of PIRM syndrome the animal welfare can be increased and at the same time the financial losses for farmers and breeding companies can be reduced" says PhD student Heli Venhoranta.

In humans, mutations in UBE3B gene are associated with Kaufman oculocerebrofacial syndrome with similar pathological findings as in PIRM syndrome. Furthermore, mice engineered to lack UBE3B expression were reported having increased lethality.

The mutation in UBE3B gene might be connected to the recently discovered Ayrshire haplotype 1 (AH1). The haplotype encompasses the mutation in UBE3B gene and of those tested 129 AI bulls, 29 had a known haplotype status for AH1. AH1 haplotype is associated with reduced fertility which could imply embryonic losses that agree with the findings of UBE3B deficiency in mice. The AH1 haplotype was perfectly associated with the UBE3B mutation in this study cohort. The estimated frequency of the AH1 haplotype was 26% in the North America Ayrshire herd. "The relationship between PIRM syndrome and AH1 haplotype needs to be clarified but our study does however provide an avenue for further investigation" concludes Venhoranta.

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The above story is based on materials provided by Helsingin yliopisto (University of Helsinki). Note: Materials may be edited for content and length.

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New inherited disease identified in calves of the Ayrshire breed

Gene testing. The phrase, on its own, is chilling and foreboding on so many levels, striking a fearful chord on anybody who has to take it.

But that thought, like so many other misconceptions about gene testing, couldnt be further away from the truth.

If pseudo mathematical equations can be used to describe gene testing, the simple mathematical equation should go like this: gene + testing = good for you.

As a once-in-a-lifetime test that reads your DNA and reveals your inherited health traits, gene testing also shows you the exact levels of risk that you have for certain diseases so you can prevent it from happening even before it takes a hold of you. The concept of gene testing shouldnt be met with fear and apprehension. On the contrary, it should be welcomed with the kind of fervor and enthusiasm from anybody who wants to understand their healths predisposition.

Eschewing its relevancy is equally misplaced because at its core, gene testing allows a person to understand his or her health and carefully map out his or her health lifestyle in order to prevent health issues from arising.

Why wait for a health issue to strike when you can prevent it so you can enjoy life better?

Thats a question LifeScience is asking, and in its simplest sense, its one that highlights the tenet prevention is better than cure. Gene testing is one of the steps that one can take to become fully equipped of information about himself.

Your gene test should be able to guide you on how to live your life so those health issues that you are likely to have will not manifest and be able to pre-empt them with proper health and maintenance courtesy of specifically-tailored health-program that suits your body, said Dr. Ben Valdecanas, medical director of LifeScience Center for Wellness and Preventive Medicine. One of its most important characteristics is its capability to accurately reveal all the actual diseases that your genes carry, as well as the genetic mutations that your predecessors have passed on to you, he adds.

LifeScience has made gene testing more accessible by making it available in its center for those actively pursuing a healthy lifestyle that is backed by medical evidence. Its one thing to be diagnosed by a doctor with a certain illness when its already inside the body. Its another thing to know about what could strike even before it does. Gene testing does not only give you a glimpse of the health issues that you are most likely to catch but also how well your body will respond to medication as well as how you can modify your lifestyle that is best suited for you.

We are encouraging Filipinos to start thinking of wellness from the perspective of prevention. Our goal at LifeScience is not make you live to a hundred but to ensure that you are able to live quality life, one that you are able to enjoy even as the years are starting to add up, adds Valdecanas.

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A glimpse at the true state of your well-being