Lysosomal Storage Disease & Cerebellar Abiotrophy in the Lagotto Romagnolo
by Kiia Montonen
I have written this in the hope that it will awaken everybody to these diseases. My name is Kiia Montonen and I am from Finland. I am a breeder of Lagotto Romagnolo and my kennel name is Romagna Valley's. My kennel had the first 2 pathologically examined male dogs from my last litter. This was the beginning of the discovery of the NEW neurological disease, Lysosomal Storage Disease, in the breed. I have also a puppy bitch from a litter in 2003, who has been confirmed, after autopsy, as having had Cerebellar Abiotrophy.
Lysosomal Storage Disease where there is a lack of some enzyme in the cells and material are therefore stuck in the cells and will destroy the cells one by one. There is no known cure for this disease. And still we do not know what kind of material is stored in the cells even though the pathological examinations has shown that cells in other parts of the body are also affected, for example, the prostate. This is a disorder that is genetically passed on to the next generation. Fortunately the University of Helsinki, in co-operation with the University of Bern, have found the gene and there will be a test for this disorder soon on the market, and you can test your lagotto for this this fatal disease that is recessively inherited from both parents. The test will be performed by Genoscoper Laboratories. A carrier of this disease is not affected at all. The dog needs to inherit the faulty gene from BOTH parents to be affected and to develop symptoms that start to show from the age of 4 months to 4 years. The symptoms are very much like the symptoms in the Cerebellar Abiotrophy disease (I had a puppy from a previous litter which was diagnosed with CA in 2003). Initially, I thought that my two lagotto boys had Cerebellar Abiotrophy but it was only after they had been autopsied that we could confirm that it was NOT Cerebellar Abiotrophy. The autopsy was carried out by the Dog Genetics Research group of The University of Helsinki. The dame, aged 10 years, of this litter has now also been autopsied but she does not have any disease at all, although she got the gene test result “carrier” of Lysosomal Storage Disease. My other old lagotto-bitch has now also been autopsied, but I have not received the report yes, but her gene test result was “normal” considering this disease.
As I said at the start, I have also had the first pathologically researched lagotto with Cerebellar Abiotropy in 2003. I will tell you this story as well, because as you all noticed the symptoms are alike Lysosomal Storage Disease, but now there is a way of getting the right diagnosis for this disease by DNA-test and the dog has not to be euthanized to get this diagnosis, but Cerebellar Abiotropy still requires autopsy to get the diagnosis. The main symptom of Cerebellar Abiotrophy is ataxia, but ataxia can also be caused by other diseases or intoxication. Basically, as there is degeneration of cerebellar cortical cells in abiotrophy, full recovery is not possible but typical course for the cerebellar abiotrophy is either slowly or rapidly progressive. I can tell you that my Vilma's litter-sister had Cerebellar Abiotrophy and lived with it for ten years. Other cerebellar diseases can be mixed with this condition and that's why it is always very important to get histopathological confirmation for the disease. For us researchers the most valuable samples are blood for DNA extraction and also histopathological brain samples (as this condition can only be confirmed histopathologically ). The complete diagnosis of Cerebellar Abiotrophy requires both neurologist and pathologist. There are skilful persons both in University of Helsinki and University of Bern who can help and contact veterinarians/ neurologists/ pathologists in other countries as well. The population of lagottos is small worldwide, so every confirmed case is very valuable for the research. In addition, blood samples from healthy relatives are collected both in Bern and in Helsinki. The pedigree information is also important; the researchers need to know how dogs who participate to the study are related to each other. So far the number of samples with histopathologically confirmed Cerebellar Abiotrophy diagnosis is small, but they have started to search for the gene(s) causing Cerebellar Abiotrophy. The research is ongoing and no preliminary results exists yet. Instructions for sample submission and participation can be asked from eija.seppala@helsinki.fi (geneticist in the University of Helsinki; www.koirangeenit.fi) tosso.leeb@vetsuisse.unibe.ch (professor in the University of Bern).
The stories are written by the owner of the dogs: The first two stories are written about my two lagotto boys - Remu and Tahvo - who were both affected by Lysosomal Storage Disease. The third story is about Vilma - who as affected byCerebellar Abiotrophy.
Lysosomal Storage Disease where there is a lack of some enzyme in the cells and material are therefore stuck in the cells and will destroy the cells one by one. There is no known cure for this disease. And still we do not know what kind of material is stored in the cells even though the pathological examinations has shown that cells in other parts of the body are also affected, for example, the prostate. This is a disorder that is genetically passed on to the next generation. Fortunately the University of Helsinki, in co-operation with the University of Bern, have found the gene and there will be a test for this disorder soon on the market, and you can test your lagotto for this this fatal disease that is recessively inherited from both parents. The test will be performed by Genoscoper Laboratories. A carrier of this disease is not affected at all. The dog needs to inherit the faulty gene from BOTH parents to be affected and to develop symptoms that start to show from the age of 4 months to 4 years. The symptoms are very much like the symptoms in the Cerebellar Abiotrophy disease (I had a puppy from a previous litter which was diagnosed with CA in 2003). Initially, I thought that my two lagotto boys had Cerebellar Abiotrophy but it was only after they had been autopsied that we could confirm that it was NOT Cerebellar Abiotrophy. The autopsy was carried out by the Dog Genetics Research group of The University of Helsinki. The dame, aged 10 years, of this litter has now also been autopsied but she does not have any disease at all, although she got the gene test result “carrier” of Lysosomal Storage Disease. My other old lagotto-bitch has now also been autopsied, but I have not received the report yes, but her gene test result was “normal” considering this disease.
As I said at the start, I have also had the first pathologically researched lagotto with Cerebellar Abiotropy in 2003. I will tell you this story as well, because as you all noticed the symptoms are alike Lysosomal Storage Disease, but now there is a way of getting the right diagnosis for this disease by DNA-test and the dog has not to be euthanized to get this diagnosis, but Cerebellar Abiotropy still requires autopsy to get the diagnosis. The main symptom of Cerebellar Abiotrophy is ataxia, but ataxia can also be caused by other diseases or intoxication. Basically, as there is degeneration of cerebellar cortical cells in abiotrophy, full recovery is not possible but typical course for the cerebellar abiotrophy is either slowly or rapidly progressive. I can tell you that my Vilma's litter-sister had Cerebellar Abiotrophy and lived with it for ten years. Other cerebellar diseases can be mixed with this condition and that's why it is always very important to get histopathological confirmation for the disease. For us researchers the most valuable samples are blood for DNA extraction and also histopathological brain samples (as this condition can only be confirmed histopathologically ). The complete diagnosis of Cerebellar Abiotrophy requires both neurologist and pathologist. There are skilful persons both in University of Helsinki and University of Bern who can help and contact veterinarians/ neurologists/ pathologists in other countries as well. The population of lagottos is small worldwide, so every confirmed case is very valuable for the research. In addition, blood samples from healthy relatives are collected both in Bern and in Helsinki. The pedigree information is also important; the researchers need to know how dogs who participate to the study are related to each other. So far the number of samples with histopathologically confirmed Cerebellar Abiotrophy diagnosis is small, but they have started to search for the gene(s) causing Cerebellar Abiotrophy. The research is ongoing and no preliminary results exists yet. Instructions for sample submission and participation can be asked from eija.seppala@helsinki.fi (geneticist in the University of Helsinki; www.koirangeenit.fi) tosso.leeb@vetsuisse.unibe.ch (professor in the University of Bern).
The stories are written by the owner of the dogs: The first two stories are written about my two lagotto boys - Remu and Tahvo - who were both affected by Lysosomal Storage Disease. The third story is about Vilma - who as affected byCerebellar Abiotrophy.
Remu | Tahvo | Vilma |
A short conclusion of Lysosomal Storage Disease:
The results of the genetic study indicate that the Lagotto Lysosomal Storage Disorder in inherited through a single gene, in an autosomal recessive manner. In recessive disorders, the affected dogs have inherited two copies of a disease-causing gene mutation. All dogs inherit one copy of each gene from their dam and one copy from their dire. Those Lagottos that receive a NORMAL result have inherited two normal copies of the discase gene. Their risk of being affected is minimal and they do not pass the mutation down to their offspring. CARRIER dogs have inherited one normal copy and one with the mutation. Their risk of being affected is also minimal but they pass the mutation down to approximately half of their offspring. If a CARRIER dog is used for breeding, it should be mated with a dog that has been tested as NORMAL. In CARRIER/CARRIER–mating, the resulting offspring can be either AFFECTED, CARRIER or NORMAL, whereas in CARRIER/NORMAL–mating, only CARRIER or NORMAL dogs are born. AFFECTED dog have inherited the mutation from both parents, and do they have two copies of the mutation. Their risk of developing the disease is very high.
IT IS NOT RECOMMENDED TO USE 'AFFECTED' DOGS FOR BREEDING.
The results of the genetic study indicate that the Lagotto Lysosomal Storage Disorder in inherited through a single gene, in an autosomal recessive manner. In recessive disorders, the affected dogs have inherited two copies of a disease-causing gene mutation. All dogs inherit one copy of each gene from their dam and one copy from their dire. Those Lagottos that receive a NORMAL result have inherited two normal copies of the discase gene. Their risk of being affected is minimal and they do not pass the mutation down to their offspring. CARRIER dogs have inherited one normal copy and one with the mutation. Their risk of being affected is also minimal but they pass the mutation down to approximately half of their offspring. If a CARRIER dog is used for breeding, it should be mated with a dog that has been tested as NORMAL. In CARRIER/CARRIER–mating, the resulting offspring can be either AFFECTED, CARRIER or NORMAL, whereas in CARRIER/NORMAL–mating, only CARRIER or NORMAL dogs are born. AFFECTED dog have inherited the mutation from both parents, and do they have two copies of the mutation. Their risk of developing the disease is very high.
IT IS NOT RECOMMENDED TO USE 'AFFECTED' DOGS FOR BREEDING.
Please feel free to contact me if you do not understand what I have tried to tell you or if you need more information.
Best regards,
Kiia Montonen and Romagna Valley´s Lagotto Romagnolo
kiiamontonen@gmail.com
Best regards,
Kiia Montonen and Romagna Valley´s Lagotto Romagnolo
kiiamontonen@gmail.com
Geen opmerkingen:
Een reactie posten