A Link between DNA Transcription and Disease Causing Expansions Which Lead to Hereditary Disorders

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Newswise Medford/Somerville, MassResearchers in human genetics have known that long nucleotide repeats in DNA lead to instability of the genome and ultimately to human hereditary diseases such Freidreich's ataxia and Huntington's disease.

Scientists have believed that the lengthening of those repeats occur during DNA replication when cells divide or when the cellular DNA repair machinery gets activated. Recently, however, it became apparent that yet another process called transcription, which is copying the information from DNA into RNA, could also been involved.

A Tufts University study published online on November 20 in the journal "Cell Reports" by a research team lead by Sergei Mirkin, the White Family Professor of Biology at Tufts' School of Arts and Sciences, along with former graduate student Kartick Shah and graduate students Ryan McGuity and Vera Egorova, explores the relationship between transcription and the expansions of DNA repeats. It concludes that the active transcriptional state of a DNA segment containing a DNA repeat predisposes it for expansions. The print version of the study will be published on December 11.

"There are a great many simple repetitive motifs in our DNA, such as GAAGAAGAA or CGGCGGCGG," says Mirkin. "They are stable and cause no harm if they stay short. Occasionally, however, they start lengthening compulsively, and these uncontrollable expansions lead to dramatic changes in genome stability, gene expression, which can lead to human disease."

In their study, the researchers used baker's yeast to monitor the progress and the fundamental genetic machineries for transcription, replication and repair in genome functioning.

"The beauty of the yeast system is that it provides one with a practically unlimited arsenal of tools to study the mechanisms of genome functioning," says Mirkin. "We created genetic systems to track down expansions of the repeats that were positioned in either transcribed or non-transcribed parts of reporter genes."

After measuring the rate of repeat expansions in all these cases, the authors found that a repeat can expand under the condition when there is practically no transcription, but the likelihood of the expansion process is drastically (10-fold) higher when the reporter is transcriptionally active.

Surprisingly, however, transcription machinery does not need to physically pass through the repeat to stimulate its expansion. Thus, it is the active transcription state of the repeat-containing DNA segment, rather than RNA synthesis through the repeat that promotes expansions.

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A Link between DNA Transcription and Disease Causing Expansions Which Lead to Hereditary Disorders

Mobile and Digital Health – Boston Children’s Hospital | Innovation Summit 2014 – Video

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Mobile and Digital Health - Boston Children #39;s Hospital | Innovation Summit 2014
Mobile and Digital Health: Health Care Everywhere The future is mobile. The mHealth market is projected to boom to $49.1 billion in 2020. Wearables such as Google Glass and FitBit are proliferatin...

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Mobile and Digital Health - Boston Children's Hospital | Innovation Summit 2014 - Video

Charles Robbins, DataPath, Discusses the HealthCare Consumerism Leadership Award – Video

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Charles Robbins, DataPath, Discusses the HealthCare Consumerism Leadership Award
In this special interview, hosts Brent Macy and Doug Field talk with Charles Robbins, director of sales, DataPath, Inc., a leading administrator of consumer-directed health care solutions....

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Robin Gelburd, FAIR Health, Discusses Next Steps for Price Transparency – Video

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Robin Gelburd, FAIR Health, Discusses Next Steps for Price Transparency
In this segment, the hosts talk with Robin Gelburd, president of FAIR Health, a national independent, not-for-profit corporation whose mission is to bring transparency to health costs and health...

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Robin Gelburd, FAIR Health, Discusses Next Steps for Price Transparency - Video

Jaime Estupin, Strategy&, Discuss the Birth of the Health Care Consumer – Video

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Jaime Estupin, Strategy , Discuss the Birth of the Health Care Consumer
In this interview, hosts Brent and Doug talk with Dr. Jaime Estupin, partner at Strategy (formerly Booz and Company), a member of the PwC network of firms. Jamie and the hosts discuss...

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Rx for Better Health Care: Kindness and Compassion

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By Kathleen Doheny HealthDay Reporter Latest Prevention & Wellness News

MONDAY, Nov. 24, 2014 (HealthDay News) -- Want to give health care a boost? Try a little kindness, experts say.

Various studies suggest that when health care workers approach patients with compassion, patients often heal faster, have less pain and anxiety, and even bounce back faster from common colds.

"When health care is delivered with kindness and compassion, it has a significantly greater effect than when it is given in a dispassionate fashion that assumes that the human connection has no benefit," said Dr. James Doty, founder and director of Stanford University School of Medicine's Center for Compassion and Altruism Research and Education.

While medicine holds the power to cure, he said, how it is delivered can make a huge difference -- not just for patients but for health care providers, too.

Doty based his comments on a review of the published research on kindness and compassion in medical care. He presented the findings earlier this month at the Compassion and Healthcare Conference in San Francisco.

According to Doty, human evolution may be key to explaining why kindness matters in health care. That's because humans evolved to include the nurturing of offspring. So, when someone nurtures someone in need, Doty said, the "feel-good" hormone, oxytocin, is released in the patient's brain. That may help patients feel less anxious and tense, translating to lowered perceptions of pain.

Displaying compassionate care is simple, Doty said. For example, "those who practice this [know to] lean toward the patient," he said, sending the patient the message that their doctor or other provider is interested.

"We know you can express concern by simple touch," said Doty, who is also a professor of neurosurgery at Stanford.

Staff can also help a patient feel cared for when they avoid the impression that they are rushed, Doty said.

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Health-care maze for the undocumented

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But it's not clear how many of the immigrants subject to Obama's order will be able to buyand able to affordhealth coverage through their jobs or in the individual health plans, said Samatha Artiga, director of the Disparities Policy Project at the Kaiser Family Foundation.

"We do know, historically, that immigrants have been more likely to have low-wage job and be in industries that do not provide health-care coverage to workers," said Artiga.

And even if they are offered coverage through their employer, "In many cases, that's unaffordable," she said.

Artiga said Obama's order could alleviate the fears of being deported that have kept some of the affected undocumented immigrants from enrolling their U.S.-born children in Medicaid and CHIP health insurance programs that those kids are eligible for due to their citizenship status.

"From past research and experience, that has always been a big barrier for enrolling children in those mixed-status families," she said.

"But I think the broader issue is that individuals remain without access to affordable health coverage options, so many of them may remain uninsured."

But that doesn't mean they will stay out of the hospital.

Uninsured undocumented immigrants, along with other uninsured Americans who visit the emergency room and get other hospital services despite being unable to pay for their care, in 2012 generated nearly $46 billion in uncompensated care costs at 4,999 U.S. hospitals in 2012, the last year data was available, according to the American Hospital Association.

Those costs, equal to 6.1 percent of total hospital expenses, end up being covered by a federally funded program, by extra charges to those with insurance, or by the hospitals themselves.

While the AHA doesn't have data on how much of those costs are due to undocumented immigrants, they can be considerable in individual cases.

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Health-care maze for the undocumented

Health-care maze remains for the undocumented

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But it's not clear how many of the immigrants subject to Obama's order will be able to buyand able to affordhealth coverage through their jobs or in the individual health plans, said Samatha Artiga, director of the Disparities Policy Project at the Kaiser Family Foundation.

"We do know, historically, that immigrants have been more likely to have low-wage job and be in industries that do not provide health-care coverage to workers," said Artiga.

And even if they are offered coverage through their employer, "In many cases, that's unaffordable," she said.

Artiga said Obama's order could alleviate the fears of being deported that have kept some of the affected undocumented immigrants from enrolling their U.S.-born children in Medicaid and CHIP health insurance programs that those kids are eligible for due to their citizenship status.

"From past research and experience, that has always been a big barrier for enrolling children in those mixed-status families," she said.

"But I think the broader issue is that individuals remain without access to affordable health coverage options, so many of them may remain uninsured."

But that doesn't mean they will stay out of the hospital.

Uninsured undocumented immigrants, along with other uninsured Americans who visit the emergency room and get other hospital services despite being unable to pay for their care, in 2012 generated nearly $46 billion in uncompensated care costs at 4,999 U.S. hospitals in 2012, the last year data was available, according to the American Hospital Association.

Those costs, equal to 6.1 percent of total hospital expenses, end up being covered by a federally funded program, by extra charges to those with insurance, or by the hospitals themselves.

While the AHA doesn't have data on how much of those costs are due to undocumented immigrants, they can be considerable in individual cases.

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Health-care maze remains for the undocumented

Schumer: Democrats shouldn't have passed health care

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Senator Chuck Schumer (D-NY) arrives for a closed conference meeting to conduct leadership elections for the next Congress on Capitol Hill in Washington November 13, 2014. REUTERS/JOSHUA ROBERTS

Senator Chuck Schumer, D-New York, criticized the Obama administration for choosing to focus on health care reform in 2009, when Democrats had large majorities in both the House and Senate, and said instead it should have focused on jobs.

"We were in the middle of a recession and people were hurting and said, 'What about me? I'm losing my job. It's not healthcare that bothers me. What about me? My income is declining and I can't do the things I used to do. It's not my healthcare at issue,'" Schumer said.

In 2009, Americans were still reeling from the effects of the financial crisis, but, said Schumer, "about 85 percent of Americans were fine with their healthcare in 2009."

He still supports the health care law but believes--and said he argued at the time--that the Democratic party should have kept its focus on economic issues in the midst of the recession. He lamented that the tea party was able to use the President's focus on health care to make the argument that "this government is aimed at someone else and not you." Schumer also said that neither Democrats in Congress nor the administration paid enough attention to selling their arguments on the need for health care reform.

This was the first of three speeches Schumer will deliver on a strategy for the Democratic Party to retake the Senate Majority in 2016. Broadly, he pointed to the decade-long decline in middle-class incomes due largely to globalization and technological shifts, and asserted that Democrats must push for an active government to protect against these forces. Schumer accepts that these shifts are inevitable, and even welcome, but they also mean Democrats are going to have to come up with policies that enable the middle class to adapt and thrive.

At this point, he didn't identify what those Democratic policies might be, but he did go on to argue that GOP policies are not as friendly to American workers. "The Republican answer is to give private-sector forces even more power to function without inhibition," said Schumer.

"By using government in a directed and focused way, we will provide a shield against the large forces that have worked against middle-class families, so that they can have a better job and more money in their pockets," Schumer said.

Schumer, who spoke at the National Press Club in Washington, is the third-ranking member of Democratic leadership in the Senate and serves as the Senate Democratic Policy Chair. In 2006 he led the successful Democratic effort to retake the Senate.

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Pathology specialist contributes to debate on breast cancer gene screening

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25-Nov-2014

Contact: Amy Blustein ablustein@wihri.org 401-681-2822 Women & Infants Hospital @womenandinfants

There has been much recent debate on the benefits and risks of screening for breast cancer using BRCA1 and BRCA2 mutations in the general adult population. With an estimated 235,000 new breast cancer diagnoses each year in the U.S. and more than 40,000 deaths, it is clearly important to be able to determine which women may be genetically predisposed to breast cancer.

Glenn E. Palomaki, PhD, associate director of the Division of Medical Screening and Special Testing in the Department of Pathology and Laboratory Medicine at Women & Infants Hospital of Rhode Island has recently published an invited commentary in the November issue of Genetics in Medicine. The commentary is entitled "Is it time for BRCA1/2 mutation screening in the general adult population? Impact of population characteristics."

A family history of breast or ovarian cancer or a personal history of early-onset cancer are strong risk factors for breast cancer. Systematic criteria when caring for a patient with a positive family history have been well established by such agencies as the U.S. Preventive Services Task Force and the National Comprehensive Cancer Network.

Dr. Palomaki said, "With the identification of the tumor suppressor genes BRCA1 and BRCA2 in the 1990s, the scientific community has extensively explored both the personal and population impact of carrying a deleterious mutation in these genes. Any new population-based screening test, such as testing for BRCA1 and BRCA2 mutations, requires consideration of key performance characteristics that evaluate both strengths and shortcomings before its introduction."

In his commentary, Dr. Palomaki cited two recent publications that present perspectives on routine, population-based screening for breast cancer using BRCA1/2 mutations in different populations.

"Together, these two publications offer an unusual opportunity to compare and contrast how distinct population differences, such as the mutations carrier rate, might influence the feasibility of population-based screening," said Dr. Palomaki. "Because founder mutations are more common in Ashkenazi Jewish women, are more easily identified and account for a higher proportion of all breast cancer cases, pilot trials in that population are indicated before launching widespread screening in Israel to identify and resolve implementation issues. Such screening in the United States, however, is more complicated, tilting the balance away from routine population screening, as least for the moment."

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Pathology specialist contributes to debate on breast cancer gene screening