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Penemuan gen bermutasi pada anjing bisa membantu
mengobati kebutaan
Sebuah cacat gen MERTK yang
bertanggung jawab diidentifikasi pada atrofi retina progresif pada anjing
vallhund Swedia telah ditemukan oleh tim ilmuwan internasional. Penemuan ini
membuka pintu untuk pengembangan terapi untuk penyakit yang menyebabkan
kebutaan baik pada anjing dan manusia......read more
Discovery of
mutated gene in dogs could help treat blindness
Date:
December 31, 2014
Source:
Helsingin yliopisto
(University of Helsinki)
Summary:
A MERTK gene defect
responsible for a recently identified form of progressive retinal atrophy in
Swedish vallhund dogs has been found by an international team of scientists.
This discovery opens the door to the development of therapies for diseases that
cause blindness both in dogs and humans.
............................
A finnish-North American collaboration
of scientists at Michigan State University and the University of Helsinki has
found a MERTK gene defect responsible for a recently identified form of
progressive retinal atrophy in Swedish vallhund dogs. This discovery opens the
door to the development of therapies for diseases that cause blindness both in
dogs and humans. The research findings were published in the paper A Novel
Canine Retinopathy Associated with MERTK in the journal PLoS
ONE in December.
Inherited retinal diseases are among the leading causes of incurable
blindness in humans as well as in dogs, where most of these conditions are
classified as progressive retinal atrophy (PRA). Because of the similarities in
ocular anatomy, canine models contribute significantly to the understanding of
retinal disease mechanisms and the development of new therapies for human
patients. The gene identified as a cause of PRA in the Swedish vallhund is
associated with a form of human retinitis pigmentosa (RP), one of the most
common incurable blindness worldwide.
This is the third paper published in PLoS ONE by the
collaborating research teams of Dr. András Komáromy at Michigan State
University, and Professor Hannes Lohi and Dr. Saija Ahonen at the University of
Helsinki. The teams' three papers, each on Nordic dogs (Swedish Vallhund and
Norwegian Elkhound) and each addressing blinding ocular diseases affecting both
dogs and people, identified genes causing retinal disease and glaucoma, which
may lead to gene therapies for dogs and humans.
"The work to characterize these diseases in two Nordic dog breeds drew
from well-established international collaborations between clinicians,
geneticists, and dog breeders. This type of longstanding, multi-disciplinary
collaboration certainly strengthens a team's response to the challenges of
unraveling complex problems and creating innovative solutions," explains
professor Lohi. All three papers were also part of Dr Ahonen's PhD thesis
published recently (https://helda.helsinki.fi/handle/10138/136144).
Ten years, seven countries, and three continents
The identification of MERTK gene as a cause of Swedish Vallhund PRA is the
result of a decade-long project that first described the newly emerged disease
in September 2014 in A Novel Form of Progressive Retinal Atrophy in Swedish
Vallhund Dogs, PLoS ONE 9(9): e106610.
Beginning in the late 1990s, Swedish and Finnish eye panelists recognized
the emergence of a new retinal disease in Swedish vallhund dogs. The retinal
abnormalities were different from any known forms of canine inherited
retinopathy.
In 2004, Komáromy, then at the University of Pennsylvania, received a
telephone call from a breeder in Midwest about a new retinal disease. "I
drove from Philadelphia to Michigan to examine the affected dogs, and began
visiting dog shows and other venues around North America and Scandinavia to
examine other Swedish vallhund dogs. It is wonderful to see that these trips helped
us to later get this far to understand these conditions," tells Komaromy.
The larger research project, which has led now to the identification of a
responsible gene, became possible when Komáromy learned of the work of
professor Lohi and Dr. Ahonen in the Department of Veterinary Biosciences and
Research Programs Unit at the University of Helsinki, Finland, and the
Folkhälsan Institute of Genetics.
Komáromy, the researchers from University of Helsinki, and collaborators
from numerous institutions, took an investigative journey across three
continents, examined 324 dogs in seven countries, described a new disease, and
managed to identify a gene that causes the disease.
Future studies will include the search for the regulatory mutation and
study of overexpression-related disease mechanisms with a possibility for a
therapeutic option with MERTK inhibitors. Meanwhile, a genetic marker test can
be developed to revise breeding programs to reduce the frequency of this
disease in the Swedish vallhund breed.
The teams' research on another, more common blinding disease in a Nordic
dogs, is about the primary glaucoma in the Norwegian Elkhound. "This study
helped us to developed a genetic test for the breed, and provides very
important information to breeders to reduce frequency of detrimental disease in
middle aged dogs," tells Dr. Ahonen. In November 2014 the team published
their discovery in A Novel Missense Mutation in ADAMTS10 in
Norwegian Elkhound Primary Glaucoma (PLoS ONE 9(11): e111941).
Story Source:
The above story is based on materials provided by Helsingin
yliopisto (University of Helsinki). Note: Materials may be edited for content and length.
Journal Reference:
1. Ann E. Cooper, Saija Ahonen, Jessica S.
Rowlan, Alison Duncan, Eija H. Seppälä, Päivi Vanhapelto, Hannes Lohi, András
M. Komáromy. A Novel Form of Progressive Retinal Atrophy in Swedish
Vallhund Dogs. PLoS ONE, 2014; 9 (9): e106610 DOI: 10.1371/journal.pone.0106610
