Top Menu

Tampilkan postingan dengan label Mutasi gen. Tampilkan semua postingan
Tampilkan postingan dengan label Mutasi gen. Tampilkan semua postingan

Penemuan gen bermutasi pada anjing bisa membantu mengobati kebutaan--T-REC-komunitas reptil-semarang--KSE-komunitas satwa eksotik

20.27
SILAHKAN MENGGUNAKAN " MESIN TRANSLATE "..GOOGLE TRANSLATE 
DISAMPING KANAN INI............. 

PLEASE USE ........ "TRANSLATE MACHINE.. GOOGLE TRANSLATE BESIDE RIGHT THIS

................. 



T-REC -TUGUMUDA REPTILES COMMUNITY-INDONESIA

 
More info :
minat gabung : ( menerima keanggotaan seluruh kota dan daerah di Indonesia )
08995557626
..................................
KSE – KOMUNITAS SATWA EKSOTIK – EXOTIC PETS COMMUNITY-- INDONESIA
Visit Our Community and Joint W/ Us....Welcome All Over The World
 KSE = KOMUNITAS SATWA EKSOTIK

MENGATASI KENDALA MINAT DAN JARAK

KAMI ADA DI TIAP KOTA DI INDONESIA 

GABUNG......... ( menerima keanggotaan seluruh kota dan daerah di Indonesia )
HUBUNGI   :  089617123865

......................... 


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 DogsPLoS ONE, 2014; 9 (9): e106610 DOI: 10.1371/journal.pone.0106610



















Mutasi gen, kunci gejala autism muncul untuk dihubungkan-- Gene mutation, key symptoms of autism appear to be linked--T-REC semarang--komunitas reptil semarang

03.16
....SILAHKAN MENGGUNAKAN " MESIN TRANSLATE "..GOOGLE TRANSLATE 
DISAMPING KANAN INI.............



PLEASE USE ........ "TRANSLATE MACHINE" .. GOOGLE TRANSLATE BESIDE RIGHT THIS


..................



Gene mutation, key symptoms of autism appear to be linked



Gene mutation, key symptoms of autism appear to be linked



Date:
April 25, 2014
Source:
Scripps Research Institute
Summary:
Abnormal brain growth is associated with autism spectrum disorder -- this scientists know. However, the relationship between the two has not been well understood. Now, research has shown that mutations in a specific gene that is disrupted in some individuals with autism results in too much growth throughout the brain, and yet surprisingly specific problems in social interactions, at least in mouse models that mimic this risk factor in humans.
.........................
Scientists have known that abnormal brain growth is associated with autism spectrum disorder. However, the relationship between the two has not been well understood.
Now, scientists from the Florida campus of The Scripps Research Institute (TSRI) have shown that mutations in a specific gene that is disrupted in some individuals with autism results in too much growth throughout the brain, and yet surprisingly specific problems in social interactions, at least in mouse models that mimic this risk factor in humans.

“What was striking is that these were basically normal animals in terms of behavior, but there were consistent deficits in tests of social interaction and recognition—which approximate a major symptom of autism,” said Damon Page, a TSRI biologist who led the study. “This suggests that when most parts of the brain are overgrown, the brain somehow adapts to it with minimal effects on behavior in general. However, brain circuits relevant to social behavior are more vulnerable or less able to tolerate this overgrowth.”
The study, which focuses on the gene phosphatase and tensin homolog (PTEN), was recently published online ahead of print by the journal Human Molecular Genetics.
Autism spectrum disorder is a neurodevelopmental disorder involving a range of symptoms and disabilities involving social deficits and communication difficulties, repetitive behaviors and interests, and sometimes cognitive delays. The disorder affects in approximately one percent of the population; some 80 percent of those diagnosed are male.
In a previous study, Page and colleagues found that mutations in Pten causes increased brain size and social deficits, with both symptoms being exacerbated by a second “hit” to a gene that regulates levels of the neurotransmitter serotonin in the brain. In the new study, the TSRI team set out to explore whether mutations in Pten result in widespread or localized overgrowth within the brain, and whether changes in brain growth are associated with broad or selective deficits in tests of autism-relevant behaviors in genetically altered mice. The team tested mice for autism spectrum disorder-related behaviors including mood, anxiety, intellectual, and circadian rhythm and/or sleep abnormalities.
The researchers found that Pten mutant mice showed altered social behavior, but few other changes—a more subtle change than would have been predicted given broad expression and critical cellular function of the gene.
Intriguingly, some of the more subtle impairments were sex-specific. In addition to social impairments, males with the mutated gene showed abnormalities related to repetitive behavior and mood/anxiety, while females exhibited additional circadian activity and emotional learning problems.
The results raise the question of how mutations in PTEN, a general regulator of growth, can have relatively selective effects on behavior and cognitive development. One idea is that PTEN mutations may desynchronize the normal pattern of growth in key cell types—the study points to dopamine neurons—that are relevant for social behavior.
“Timing is everything,” Page said. “Connections have to form in the right place at the right time for circuits to develop normally. Circuitry involved in social behavior may turn out to be particularly vulnerable to the effects of poorly coordinated growth.”


Story Source:
The above story is based on materials provided by Scripps Research Institute. Note: Materials may be edited for content and length.


Journal Reference:
  1. A. E. Clipperton-Allen, D. T. Page. Pten haploinsufficient mice show broad brain overgrowth but selective impairments in autism-relevant behavioral tests. Human Molecular Genetics, 2014; DOI: 10.1093/hmg/ddu057


Cite This Page:
Scripps Research Institute. "Gene mutation, key symptoms of autism appear to be linked." ScienceDaily. ScienceDaily, 25 April 2014. <www.sciencedaily.com/releases/2014/04/140425091843.htm



 

 
 
Designed By OddThemes | Distributed By Gooyaabi Templates