Israeli researchers discover gene mutation in Ashkenazi Jews
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06 Dec 2024, 3:49 pm
https://www.timesofisrael.com/israeli-r ... se-autism/
Always hearing about Autism research in Israel, don't know why its only a small country with existential issues to deal with. But for some reason they appear to be a leader
Quote:
One in 80 Ashkenazi Jews carry the TBCB gene; Israelis can now test for it as part of the Health Ministry national healthcare basket
Researchers at Rambam Medical Center in Haifa have identified a genetic mutation linked to a certain type of autism, developmental delays and movement disorders.
The mutation in the TBCB gene (Tubulin Folding Cofactor B), discovered by Dr. Sharon Bratman-Morag and Dr. Karin Weiss, is carried by one in 80 Ashkenazi Jews.
If both parents carry the gene, there is a 25 percent chance that their child could inherit the condition and show related symptoms.
The Health Ministry incorporated a screening test for the TBCB gene mutation as part of the national healthcare basket in November, making it accessible to all couples planning for pregnancy.
“The discovery can help families understand the risks to their pregnancies,” Bratman-Morg told The Times of Israel. “It also shows the increasing capabilities of genetic screening.”
What is autism spectrum disorder?
Autism spectrum disorder (ASD) is a neurological and developmental disorder that affects how people interact with others, communicate, learn and behave.
Although ASD can be diagnosed at any age, its symptoms generally appear in the first two years of life.
The causes of autism can be genetic. Israeli researchers, for example, have found gene mutations that might cause SHANK3 autism, a type of genetic autism that affects one million people worldwide. People with this autism may have delayed or absent speech, difficulties with social interaction, motor impairment and repetitive behaviors.
Autism Syndrome Disorder. (Rambam Medical Center)
Researchers at Rambam Medical Center in Haifa have identified a genetic mutation linked to a certain type of autism, developmental delays and movement disorders.
The mutation in the TBCB gene (Tubulin Folding Cofactor B), discovered by Dr. Sharon Bratman-Morag and Dr. Karin Weiss, is carried by one in 80 Ashkenazi Jews.
If both parents carry the gene, there is a 25 percent chance that their child could inherit the condition and show related symptoms.
Promoted: Sheba Global, Dr. Ben Boursi
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The Health Ministry incorporated a screening test for the TBCB gene mutation as part of the national healthcare basket in November, making it accessible to all couples planning for pregnancy.
“The discovery can help families understand the risks to their pregnancies,” Bratman-Morg told The Times of Israel. “It also shows the increasing capabilities of genetic screening.”
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Emotion emoticons are used by a psychologist during a therapy session with a child with autism. (iStock)
What is autism spectrum disorder?
Autism spectrum disorder (ASD) is a neurological and developmental disorder that affects how people interact with others, communicate, learn and behave.
Although ASD can be diagnosed at any age, its symptoms generally appear in the first two years of life.
The causes of autism can be genetic. Israeli researchers, for example, have found gene mutations that might cause SHANK3 autism, a type of genetic autism that affects one million people worldwide. People with this autism may have delayed or absent speech, difficulties with social interaction, motor impairment and repetitive behaviors.
Advertisement
Ad Feedback
Environmental factors can also cause ASD. A study by Dr. Haitham Amal of the Hebrew University of Jerusalem found a link between nitric oxide, a compound in air pollution, and autism.
A recent study by Ben-Gurion University in the Negev, Clalit Healthcare and the Health Ministry found a significant increase in ASD in Israel, rising from 14,914 in 2017 to 32,222 in 2021.
This figure corresponds to significant increases in ASD around the world.
Autism Syndrome Disorder. (Rambam Medical Center)
Researchers at Rambam Medical Center in Haifa have identified a genetic mutation linked to a certain type of autism, developmental delays and movement disorders.
The mutation in the TBCB gene (Tubulin Folding Cofactor B), discovered by Dr. Sharon Bratman-Morag and Dr. Karin Weiss, is carried by one in 80 Ashkenazi Jews.
If both parents carry the gene, there is a 25 percent chance that their child could inherit the condition and show related symptoms.
Promoted: Sheba Global, Dr. Ben Boursi
Keep Watching
Skip Ad
Ad Feedback
The Health Ministry incorporated a screening test for the TBCB gene mutation as part of the national healthcare basket in November, making it accessible to all couples planning for pregnancy.
“The discovery can help families understand the risks to their pregnancies,” Bratman-Morg told The Times of Israel. “It also shows the increasing capabilities of genetic screening.”
Get The Times of Israel's Daily Edition
by email and never miss our top stories
Newsletter email address
Your email
Get it
By signing up, you agree to the terms
Emotion emoticons are used by a psychologist during a therapy session with a child with autism. (iStock)
What is autism spectrum disorder?
Autism spectrum disorder (ASD) is a neurological and developmental disorder that affects how people interact with others, communicate, learn and behave.
Although ASD can be diagnosed at any age, its symptoms generally appear in the first two years of life.
The causes of autism can be genetic. Israeli researchers, for example, have found gene mutations that might cause SHANK3 autism, a type of genetic autism that affects one million people worldwide. People with this autism may have delayed or absent speech, difficulties with social interaction, motor impairment and repetitive behaviors.
Advertisement
Ad Feedback
Environmental factors can also cause ASD. A study by Dr. Haitham Amal of the Hebrew University of Jerusalem found a link between nitric oxide, a compound in air pollution, and autism.
A recent study by Ben-Gurion University in the Negev, Clalit Healthcare and the Health Ministry found a significant increase in ASD in Israel, rising from 14,914 in 2017 to 32,222 in 2021.
This figure corresponds to significant increases in ASD around the world.
The Ashkenazi gene connection
Bratman-Morag, who is currently doing an internship in clinical genetics at Rambam, said that during her rotation at the Rambam Genetic Institute under Dr. Karin Weiss’s supervision six years ago, she and Weiss met a family of Ashkenazi Jewish origin.
Both of their children had mild cognitive impairment and ASD. They also had a movement disorder known medically as hereditary spastic paraparesis. This disorder affects the spinal cord and nerves, causing stiffness in the leg muscles and making walking and balancing difficult.
“We couldn’t find an explanation for their symptoms using regular genetic tests,” Bratman-Morag said.
The researchers used a special test that looks at the exome, a part of the DNA used for making proteins and where many genetic diseases originate.
“We found that both children had two copies of a faulty version of the TBCB gene,” she said. “We saw that both parents were carriers with one normal copy of the gene and one faulty copy.”
In a healthy body, the TBCB gene helps maintain a cell’s shape and supports its structure. However, mutations in the TBCB gene can disrupt how cells work in the brain, causing developmental and movement disorders.
“The TBCB gene had never been connected to any disease before,” Bratman-Morag said.
To understand further, the researchers teamed up with scientists at the Technion Faculty of Medicine.
At Prof. Daniel Kornitzer’s lab, the researchers used a yeast model. At Prof. Adi Salzberg’s lab, they used a fly model, in which they did gene editing using CRISPR, a tool that allows scientists to make precise changes in the structure of DNA.
Yeast and flies are often used in scientific experiments because they share some genetic similarities with humans.
“We also tested the two patients’ cells at Dr. Weiss’s lab,” Bratman-Morag said.
The experiments confirmed that the TBCB genetic mutation could lead to ASD and related disorders.
In non-Jewish populations, Bratman-Morag said, the occurrence of TBCB is 5:100,000.
In Ashkenazi Jews, the rate is 1:80. During their years of research, the researchers found eight more patients around the world with the same mutation.
“All of them are Ashkenazi Jews,” she said.
TBCB genetic testing in the national healthcare basket
In November, the Health Ministry began to include the TBCB gene testing in the national healthcare basket. It is accessible to all Israelis and not only Ashkenazi Jews.
“Nowadays in Israel, many people can’t really tell their exact origin,” she said. “This fact, and the fact that the cost of genetic tests is lower than previously, helped the ministry’s decision of one screening test for all.”
When two parents are carriers of the gene, Bratman-Morag said, “they have a one in four possibility of having a child with this syndrome.”
Then, parents have options.
They can choose to have an abortion, she said, or to have in-vitro fertilization with genetic screening, in which only embryos without two abnormal copies of the TBCB gene are put into the uterus.
The third option is to keep the pregnancy, she said.
A year after the child is born, she said, parents will be able to see if their child has difficulty with motor development.
In that case, “they can give the child physiotherapy at an early age and help them develop,” Bratman-Morag said.
The illness “causes them difficulties with walking, but they can learn to live with that,” she said.
Researchers at Rambam Medical Center in Haifa have identified a genetic mutation linked to a certain type of autism, developmental delays and movement disorders.
The mutation in the TBCB gene (Tubulin Folding Cofactor B), discovered by Dr. Sharon Bratman-Morag and Dr. Karin Weiss, is carried by one in 80 Ashkenazi Jews.
If both parents carry the gene, there is a 25 percent chance that their child could inherit the condition and show related symptoms.
The Health Ministry incorporated a screening test for the TBCB gene mutation as part of the national healthcare basket in November, making it accessible to all couples planning for pregnancy.
“The discovery can help families understand the risks to their pregnancies,” Bratman-Morg told The Times of Israel. “It also shows the increasing capabilities of genetic screening.”
What is autism spectrum disorder?
Autism spectrum disorder (ASD) is a neurological and developmental disorder that affects how people interact with others, communicate, learn and behave.
Although ASD can be diagnosed at any age, its symptoms generally appear in the first two years of life.
The causes of autism can be genetic. Israeli researchers, for example, have found gene mutations that might cause SHANK3 autism, a type of genetic autism that affects one million people worldwide. People with this autism may have delayed or absent speech, difficulties with social interaction, motor impairment and repetitive behaviors.
Autism Syndrome Disorder. (Rambam Medical Center)
Researchers at Rambam Medical Center in Haifa have identified a genetic mutation linked to a certain type of autism, developmental delays and movement disorders.
The mutation in the TBCB gene (Tubulin Folding Cofactor B), discovered by Dr. Sharon Bratman-Morag and Dr. Karin Weiss, is carried by one in 80 Ashkenazi Jews.
If both parents carry the gene, there is a 25 percent chance that their child could inherit the condition and show related symptoms.
Promoted: Sheba Global, Dr. Ben Boursi
Keep Watching
Skip Ad
Ad Feedback
The Health Ministry incorporated a screening test for the TBCB gene mutation as part of the national healthcare basket in November, making it accessible to all couples planning for pregnancy.
“The discovery can help families understand the risks to their pregnancies,” Bratman-Morg told The Times of Israel. “It also shows the increasing capabilities of genetic screening.”
Get The Times of Israel's Daily Edition
by email and never miss our top stories
Newsletter email address
Your email
Get it
By signing up, you agree to the terms
Emotion emoticons are used by a psychologist during a therapy session with a child with autism. (iStock)
What is autism spectrum disorder?
Autism spectrum disorder (ASD) is a neurological and developmental disorder that affects how people interact with others, communicate, learn and behave.
Although ASD can be diagnosed at any age, its symptoms generally appear in the first two years of life.
The causes of autism can be genetic. Israeli researchers, for example, have found gene mutations that might cause SHANK3 autism, a type of genetic autism that affects one million people worldwide. People with this autism may have delayed or absent speech, difficulties with social interaction, motor impairment and repetitive behaviors.
Advertisement
Ad Feedback
Environmental factors can also cause ASD. A study by Dr. Haitham Amal of the Hebrew University of Jerusalem found a link between nitric oxide, a compound in air pollution, and autism.
A recent study by Ben-Gurion University in the Negev, Clalit Healthcare and the Health Ministry found a significant increase in ASD in Israel, rising from 14,914 in 2017 to 32,222 in 2021.
This figure corresponds to significant increases in ASD around the world.
Autism Syndrome Disorder. (Rambam Medical Center)
Researchers at Rambam Medical Center in Haifa have identified a genetic mutation linked to a certain type of autism, developmental delays and movement disorders.
The mutation in the TBCB gene (Tubulin Folding Cofactor B), discovered by Dr. Sharon Bratman-Morag and Dr. Karin Weiss, is carried by one in 80 Ashkenazi Jews.
If both parents carry the gene, there is a 25 percent chance that their child could inherit the condition and show related symptoms.
Promoted: Sheba Global, Dr. Ben Boursi
Keep Watching
Skip Ad
Ad Feedback
The Health Ministry incorporated a screening test for the TBCB gene mutation as part of the national healthcare basket in November, making it accessible to all couples planning for pregnancy.
“The discovery can help families understand the risks to their pregnancies,” Bratman-Morg told The Times of Israel. “It also shows the increasing capabilities of genetic screening.”
Get The Times of Israel's Daily Edition
by email and never miss our top stories
Newsletter email address
Your email
Get it
By signing up, you agree to the terms
Emotion emoticons are used by a psychologist during a therapy session with a child with autism. (iStock)
What is autism spectrum disorder?
Autism spectrum disorder (ASD) is a neurological and developmental disorder that affects how people interact with others, communicate, learn and behave.
Although ASD can be diagnosed at any age, its symptoms generally appear in the first two years of life.
The causes of autism can be genetic. Israeli researchers, for example, have found gene mutations that might cause SHANK3 autism, a type of genetic autism that affects one million people worldwide. People with this autism may have delayed or absent speech, difficulties with social interaction, motor impairment and repetitive behaviors.
Advertisement
Ad Feedback
Environmental factors can also cause ASD. A study by Dr. Haitham Amal of the Hebrew University of Jerusalem found a link between nitric oxide, a compound in air pollution, and autism.
A recent study by Ben-Gurion University in the Negev, Clalit Healthcare and the Health Ministry found a significant increase in ASD in Israel, rising from 14,914 in 2017 to 32,222 in 2021.
This figure corresponds to significant increases in ASD around the world.
The Ashkenazi gene connection
Bratman-Morag, who is currently doing an internship in clinical genetics at Rambam, said that during her rotation at the Rambam Genetic Institute under Dr. Karin Weiss’s supervision six years ago, she and Weiss met a family of Ashkenazi Jewish origin.
Both of their children had mild cognitive impairment and ASD. They also had a movement disorder known medically as hereditary spastic paraparesis. This disorder affects the spinal cord and nerves, causing stiffness in the leg muscles and making walking and balancing difficult.
“We couldn’t find an explanation for their symptoms using regular genetic tests,” Bratman-Morag said.
The researchers used a special test that looks at the exome, a part of the DNA used for making proteins and where many genetic diseases originate.
“We found that both children had two copies of a faulty version of the TBCB gene,” she said. “We saw that both parents were carriers with one normal copy of the gene and one faulty copy.”
In a healthy body, the TBCB gene helps maintain a cell’s shape and supports its structure. However, mutations in the TBCB gene can disrupt how cells work in the brain, causing developmental and movement disorders.
“The TBCB gene had never been connected to any disease before,” Bratman-Morag said.
To understand further, the researchers teamed up with scientists at the Technion Faculty of Medicine.
At Prof. Daniel Kornitzer’s lab, the researchers used a yeast model. At Prof. Adi Salzberg’s lab, they used a fly model, in which they did gene editing using CRISPR, a tool that allows scientists to make precise changes in the structure of DNA.
Yeast and flies are often used in scientific experiments because they share some genetic similarities with humans.
“We also tested the two patients’ cells at Dr. Weiss’s lab,” Bratman-Morag said.
The experiments confirmed that the TBCB genetic mutation could lead to ASD and related disorders.
In non-Jewish populations, Bratman-Morag said, the occurrence of TBCB is 5:100,000.
In Ashkenazi Jews, the rate is 1:80. During their years of research, the researchers found eight more patients around the world with the same mutation.
“All of them are Ashkenazi Jews,” she said.
TBCB genetic testing in the national healthcare basket
In November, the Health Ministry began to include the TBCB gene testing in the national healthcare basket. It is accessible to all Israelis and not only Ashkenazi Jews.
“Nowadays in Israel, many people can’t really tell their exact origin,” she said. “This fact, and the fact that the cost of genetic tests is lower than previously, helped the ministry’s decision of one screening test for all.”
When two parents are carriers of the gene, Bratman-Morag said, “they have a one in four possibility of having a child with this syndrome.”
Then, parents have options.
They can choose to have an abortion, she said, or to have in-vitro fertilization with genetic screening, in which only embryos without two abnormal copies of the TBCB gene are put into the uterus.
The third option is to keep the pregnancy, she said.
A year after the child is born, she said, parents will be able to see if their child has difficulty with motor development.
In that case, “they can give the child physiotherapy at an early age and help them develop,” Bratman-Morag said.
The illness “causes them difficulties with walking, but they can learn to live with that,” she said.
_________________
"The reasonable man adapts himself to the world; the unreasonable one persists in trying to adapt the world to himself. Therefore all progress depends upon the unreasonable man."
- George Bernie Shaw
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