자궁섬유종 유발과 연관 있는 불완전 유전자

생물학연구정보센터(BRIC)

생물학연구정보센터(BRIC)

생물학연구정보센터(BRIC)

자궁섬유종 유발과 연관 있는 불완전 유전자 - 영문
2002-02-25 의학/
유전자 돌연 변이(genetic mutation)의 동정은 언젠가 통증(discomfort), 출혈(bleeding) 그리고 떨어진 수정 능력(fertility)을 유발할 수 있는 흔한 부인과 부분의 문제인 섬유종(fibroid)에 대한 새로운 치료법을 개발시켜 줄 것으로 기대된다.

Defective Gene Tied to Uterine Fibroids

SUNDAY, Feb. 24 (HealthScoutNews) -- The identification of a genetic mutation could one day lead to new treatments for fibroids, a common gynecological problem that can cause discomfort, bleeding and reduced fertility.

An international team of scientists has identified a gene mutation linked to a condition called multiple cutaneous and uterine leiomyomatosis, which causes non-cancerous but problematic fibroid tumors in the uterus and skin. Uterine fibroids usually appear in women between the ages of 20 and 35.

In the United States, roughly 30 percent of women develop uterine fibroids during their lifetime, but not every woman will experience the symptoms of pain and bleeding.

Current treatments include drugs that can temporarily shrink the fibroids. But some women require surgical removal of the fibroids or even a hysterectomy, although that procedure is usually a last resort.

According to Dr. Ian P.M. Tomlinson, a researcher with London's Imperial Cancer Research Fund, there had been little medical literature on multiple cutaneous and uterine leiomyomatosis. But there were some reports of fibroids running in families.

At the same time, it appears that some people with multiple cutaneous and uterine leiomyomatosis are also at increased risk of a rare but aggressive cancer called type II papillary renal cell carcinoma.

"We thought that there was a good chance that this was a genetic disorder," says Tomlinson. "We went out and identified families, and it looked very much like it was genetic once we'd done that."

A team led by Dr. Richard Houlston, an expert in cancer genetics at the Institute of Cancer Research (news - web sites) in Surrey, England, had narrowed the search for the uterine fibroid gene to chromosome 1 by May 2001. But after learning that Tomlinson's group and another team of researchers in Finland were looking for the same gene, the scientists decided to pool their research and work together.

The result was the identification of the fumarate hydratase, or FH gene, which they describe in the Feb. 25 issue of Nature Genetics.

Normally, the fumarate hydratase gene plays a role in basic cell energy production, and it's commonly referred to as a "housekeeping" gene. Tomlinson says that their findings suggest that fibroid cells have defective energy production.

But the exact mechanism of how mutations in the FH gene lead to fibroids is not as clear, says Tomlinson.

"We know that these people have inherited one copy of the gene that's faulty," he says. "The tumors start off without any or very little function of this [gene]."

Houlston says that identifying the mutated FH gene could help give researchers a better grasp of why uterine fibroids develop.

"It does actually provide a very good model as to why fibroids may develop, and you could manipulate it in a cell system and try and learn more about it," says Houlston.

"In terms of fibroids, if you have a good model system, it's theoretically possible that you could produce therapies and interventions which could have benefits," he adds.

Dr. William Foulkes, an assistant professor of human genetics at McGill University in Montreal, Canada, is familiar with the research, and says that, at first glance, the findings may seem surprising.

"Fumarate hydratase is not exactly a gene you would have immediately thought of as a candidate for diseases as varied as uterine fibroids, skin leiomylomas and papillary renal cell cancer," says Foulkes.

But, he notes, genes located near the FH gene are linked to some hereditary cancers.

정보출처 : HealthScoutNews
정보제공 : 한국과학기술정보연구원(KISTI) 해외과학기술동향
(본 내용은 한국과학기술정보연구원과 정보이용 협약을 맺고 제공되며 저작권은 한국과학기술정보연구원에 있습니다.)



Copyright(c) 2003 BRIC, All rights reserved. Contact to trend@bric.postech.ac.kr
- 영문
2002-02-25 의학/
유전자 돌연 변이(genetic mutation)의 동정은 언젠가 통증(discomfort), 출혈(bleeding) 그리고 떨어진 수정 능력(fertility)을 유발할 수 있는 흔한 부인과 부분의 문제인 섬유종(fibroid)에 대한 새로운 치료법을 개발시켜 줄 것으로 기대된다.

Defective Gene Tied to Uterine Fibroids

SUNDAY, Feb. 24 (HealthScoutNews) -- The identification of a genetic mutation could one day lead to new treatments for fibroids, a common gynecological problem that can cause discomfort, bleeding and reduced fertility.

An international team of scientists has identified a gene mutation linked to a condition called multiple cutaneous and uterine leiomyomatosis, which causes non-cancerous but problematic fibroid tumors in the uterus and skin. Uterine fibroids usually appear in women between the ages of 20 and 35.

In the United States, roughly 30 percent of women develop uterine fibroids during their lifetime, but not every woman will experience the symptoms of pain and bleeding.

Current treatments include drugs that can temporarily shrink the fibroids. But some women require surgical removal of the fibroids or even a hysterectomy, although that procedure is usually a last resort.

According to Dr. Ian P.M. Tomlinson, a researcher with London's Imperial Cancer Research Fund, there had been little medical literature on multiple cutaneous and uterine leiomyomatosis. But there were some reports of fibroids running in families.

At the same time, it appears that some people with multiple cutaneous and uterine leiomyomatosis are also at increased risk of a rare but aggressive cancer called type II papillary renal cell carcinoma.

"We thought that there was a good chance that this was a genetic disorder," says Tomlinson. "We went out and identified families, and it looked very much like it was genetic once we'd done that."

A team led by Dr. Richard Houlston, an expert in cancer genetics at the Institute of Cancer Research (news - web sites) in Surrey, England, had narrowed the search for the uterine fibroid gene to chromosome 1 by May 2001. But after learning that Tomlinson's group and another team of researchers in Finland were looking for the same gene, the scientists decided to pool their research and work together.

The result was the identification of the fumarate hydratase, or FH gene, which they describe in the Feb. 25 issue of Nature Genetics.

Normally, the fumarate hydratase gene plays a role in basic cell energy production, and it's commonly referred to as a "housekeeping" gene. Tomlinson says that their findings suggest that fibroid cells have defective energy production.

But the exact mechanism of how mutations in the FH gene lead to fibroids is not as clear, says Tomlinson.

"We know that these people have inherited one copy of the gene that's faulty," he says. "The tumors start off without any or very little function of this [gene]."

Houlston says that identifying the mutated FH gene could help give researchers a better grasp of why uterine fibroids develop.

"It does actually provide a very good model as to why fibroids may develop, and you could manipulate it in a cell system and try and learn more about it," says Houlston.

"In terms of fibroids, if you have a good model system, it's theoretically possible that you could produce therapies and interventions which could have benefits," he adds.

Dr. William Foulkes, an assistant professor of human genetics at McGill University in Montreal, Canada, is familiar with the research, and says that, at first glance, the findings may seem surprising.

"Fumarate hydratase is not exactly a gene you would have immediately thought of as a candidate for diseases as varied as uterine fibroids, skin leiomylomas and papillary renal cell cancer," says Foulkes.

But, he notes, genes located near the FH gene are linked to some hereditary cancers.

정보출처 : HealthScoutNews
정보제공 : 한국과학기술정보연구원(KISTI) 해외과학기술동향
(본 내용은 한국과학기술정보연구원과 정보이용 협약을 맺고 제공되며 저작권은 한국과학기술정보연구원에 있습니다.)



Copyright(c) 2003 BRIC, All rights reserved. Contact to trend@bric.postech.ac.kr
영문
2002-02-25 의학/
유전자 돌연 변이(genetic mutation)의 동정은 언젠가 통증(discomfort), 출혈(bleeding) 그리고 떨어진 수정 능력(fertility)을 유발할 수 있는 흔한 부인과 부분의 문제인 섬유종(fibroid)에 대한 새로운 치료법을 개발시켜 줄 것으로 기대된다.

Defective Gene Tied to Uterine Fibroids

SUNDAY, Feb. 24 (HealthScoutNews) -- The identification of a genetic mutation could one day lead to new treatments for fibroids, a common gynecological problem that can cause discomfort, bleeding and reduced fertility.

An international team of scientists has identified a gene mutation linked to a condition called multiple cutaneous and uterine leiomyomatosis, which causes non-cancerous but problematic fibroid tumors in the uterus and skin. Uterine fibroids usually appear in women between the ages of 20 and 35.

In the United States, roughly 30 percent of women develop uterine fibroids during their lifetime, but not every woman will experience the symptoms of pain and bleeding.

Current treatments include drugs that can temporarily shrink the fibroids. But some women require surgical removal of the fibroids or even a hysterectomy, although that procedure is usually a last resort.

According to Dr. Ian P.M. Tomlinson, a researcher with London's Imperial Cancer Research Fund, there had been little medical literature on multiple cutaneous and uterine leiomyomatosis. But there were some reports of fibroids running in families.

At the same time, it appears that some people with multiple cutaneous and uterine leiomyomatosis are also at increased risk of a rare but aggressive cancer called type II papillary renal cell carcinoma.

"We thought that there was a good chance that this was a genetic disorder," says Tomlinson. "We went out and identified families, and it looked very much like it was genetic once we'd done that."

A team led by Dr. Richard Houlston, an expert in cancer genetics at the Institute of Cancer Research (news - web sites) in Surrey, England, had narrowed the search for the uterine fibroid gene to chromosome 1 by May 2001. But after learning that Tomlinson's group and another team of researchers in Finland were looking for the same gene, the scientists decided to pool their research and work together.

The result was the identification of the fumarate hydratase, or FH gene, which they describe in the Feb. 25 issue of Nature Genetics.

Normally, the fumarate hydratase gene plays a role in basic cell energy production, and it's commonly referred to as a "housekeeping" gene. Tomlinson says that their findings suggest that fibroid cells have defective energy production.

But the exact mechanism of how mutations in the FH gene lead to fibroids is not as clear, says Tomlinson.

"We know that these people have inherited one copy of the gene that's faulty," he says. "The tumors start off without any or very little function of this [gene]."

Houlston says that identifying the mutated FH gene could help give researchers a better grasp of why uterine fibroids develop.

"It does actually provide a very good model as to why fibroids may develop, and you could manipulate it in a cell system and try and learn more about it," says Houlston.

"In terms of fibroids, if you have a good model system, it's theoretically possible that you could produce therapies and interventions which could have benefits," he adds.

Dr. William Foulkes, an assistant professor of human genetics at McGill University in Montreal, Canada, is familiar with the research, and says that, at first glance, the findings may seem surprising.

"Fumarate hydratase is not exactly a gene you would have immediately thought of as a candidate for diseases as varied as uterine fibroids, skin leiomylomas and papillary renal cell cancer," says Foulkes.

But, he notes, genes located near the FH gene are linked to some hereditary cancers.

정보출처 : HealthScoutNews
정보제공 : 한국과학기술정보연구원(KISTI) 해외과학기술동향
(본 내용은 한국과학기술정보연구원과 정보이용 협약을 맺고 제공되며 저작권은 한국과학기술정보연구원에 있습니다.)



Copyright(c) 2003 BRIC, All rights reserved. Contact to trend@bric.postech.ac.kr