Navigation Links
The same genetic defect causes Pompe disease in both humans and dogs
Date:2/15/2013

Pompe disease, a severe glycogen storage disease appearing in Lapphunds is caused by a genetic defect in acid α-glucosidase gene. The same genetic mutation also causes the equivalent disease in humans. Based on this finding, canine Pompe disease can now be diagnosed with a genetic test.

This research was completed at the Canine Genetics Research Group lead by professor Hannes Lohi in the University of Helsinki and Folkhlsan Research Center in Finland and will be published in PLOS ONE on February 14, 2013.

Human Pompe disease is caused by complete or partial deficiency of the acidic α-glucosidase enzyme. In humans, over 300 mutations have been discovered in the gene encoding this enzyme. Pompe disease is recessively inherited, therefore requiring the inheritance of the defected gene from both father and mother. Typically, human patients have two different mutations; one is inherited from father and the other from mother. If both mutations cause severe defect to the enzyme, the enzymatic activity is completely lost. This leads to infantile onset Pompe disease.

The average onset of the infantile disease is before two months of age and the affected children often die before the age of one year. Typical symptoms are floppy appearance, difficulties in sucking and swallowing, an enlarged heart which may lead to heart failure, difficulties in breathing, and respiratory infections. There is no cure for the disease, but enzyme replacement therapy relieves the symptoms and prolongs the patient's lifespan.

Canine Pompe disease is known to occur in Swedish Lapphunds and in this study it was revealed also from Finnish Lapphunds. Both the affected puppies and infantile onset patients lack functional acid α-glucosidase enzyme. Normally this enzyme breaks down the stored glycogen into glucose inside the lysosomes. When the α-glucosidase enzyme is not working properly, glycogen accumulates inside the cells of all tissues. In Pompe disease, glycogen doesn't break down naturally and accumulation most severely affects tissue function of the muscles.

Fast discovery of the gene defect

"From previous studies we knew which enzyme is defective in human patients, so we had a clear candidate gene for our canine studies" states professor Hannes Lohi, the leader of the Canine Genetics Group.

Sequencing the gene from the Finnish Lapphund litter revealed a recessively inherited mutation. This mutation is the same as one of the known 300 mutations in humans. Affected dogs carried two copies of the mutation, the parents were carriers and healthy siblings were either carriers or free of the mutation.

"The effect of the mutation to the gene product is so severe, that although we only had two affected cases in our study, we are certain we have identified the causative mutation" assures the first author of the paper Dr. Eija Seppl.

The research was carried out in collaboration with Dr. Arnold Reuser who works in the Erasmus MC, Netherlands. With Dr. Reusers' help, a stored cell sample from an affected Swedish Lapphund born already in the 1970s was also tested. This dog was affected by the same mutation as the Finnish Lapphunds.

Finnish Lapphund, Swedish Lapphund and Lapponian Herder have common ancestors from the original reindeer-herding dog population. Therefore one aim was to discover the mutation frequency among current Lapphund and Lapponian Herder populations. A carrier frequency of 5% among Finnish Lapphunds and 2% among Lapponian Herders was revealed by testing approximately 100 dogs from both breeds. In addition, a total of 34 Swedish Lapphunds from Finland, Sweden and Norway were tested. All of these dogs were healthy and did not carry the mutation. It is possible that the sample size was too small for Swedish Lapphund breed and therefore carriers were not detected or it is possible that rigorous breeding program in the 1980s and 1990s has eliminated all the carriers from the current breed.


'/>"/>

Contact: Hannes Lohi
hannes.lohi@helsinki.fi
358-919-125-085
University of Helsinki
Source:Eurekalert  

Related medicine news :

1. IntegraGen launches ARISk test, a genetic screening tool for autism in high-risk children
2. 2 genetic deletions in human genome linked to the development of aggressive prostate cancer
3. Head, Body Lice Are Genetically Very Similar
4. Certain Genetic Regions May Be Tied to Osteoporosis
5. Study of half siblings provides genetic clues to autism
6. Genetic variants, tobacco exposure and lung cancer risk
7. Research Gets Closer to Genetic Roots of Glaucoma
8. Moffitt researcher awarded GE grant to develop tool to detect breast cancer metastasis genetic risks
9. Genetically modified T cell therapy shown to be safe, lasting in decade-long study of HIV patients
10. Some women may be genetically predisposed to smoking-related hot flashes
11. Genetic abnormalities in benign or malignant tissues predict relapse of prostate cancer
Post Your Comments:
*Name:
*Comment:
*Email:
Related Image:
The same genetic defect causes Pompe disease in both humans and dogs
(Date:4/26/2017)... ... April 26, 2017 , ... Datos Health , developer of a pioneering ... , the largest Electronic Medical Records (EMR) provider in South Africa. By using ... a patient’s remote health progress, empowering the patient to take direct responsibility for their ...
(Date:4/26/2017)... FL (PRWEB) , ... April 26, 2017 , ... Miami ... anniversary as a dentist. , “I could have never imagined back in 1991 that ... personally,” said Dr. Gallardo. , Over the last 25 years, Dr. Gallardo has pioneered ...
(Date:4/26/2017)... ... April 26, 2017 , ... ... for sponsors and CROs to speed clinical development, has released the industry’s ... Bioclinica AGILE RTSM provides seamless clinical supply forecasting and management ...
(Date:4/25/2017)... ... April 25, 2017 , ... ... agreement to be the preferred physical therapy provider for Derby City CrossFit, effective ... Derby City CrossFit as quickly and effectively as possible, ProRehab’s sports physical therapists ...
(Date:4/25/2017)... ... April 25, 2017 , ... ... compare student test score performance for the 2015-16 school year across Wisconsin’s public ... programs. Though it highlights important patterns in student test score performance, the report’s ...
Breaking Medicine News(10 mins):
(Date:4/19/2017)... HANOVER, N.J. , April 19, 2017 /PRNewswire/ ... conducted by the National Heart, Lung, and Blood ... (NIH) demonstrating that 58% of patients with treatment-naïve ... six months when treated with eltrombopag at the ... 1 . The study evaluated three sequential treatment ...
(Date:4/18/2017)... Cogentix Medical, Inc. (NASDAQ: CGNT), a global medical device ... markets with innovative and proprietary products, will release financial ... after the market close on Tuesday, May 2, 2017. ... call and webcast to discuss its financial results the ... p.m. Eastern Time (3:30 p.m. Central Time). Darin ...
(Date:4/18/2017)... , April 18, 2017  Astute Medical, Inc., ... case series to be presented at the 2017 National ... begins today and continues through April 22. Physicians will ... , used to assess risk for acute kidney injury ... heart failure (ADHF). Elevated levels of ...
Breaking Medicine Technology: