FYI from the NHLBI Index
January 2012: Vol. 12, Issue 3
In the News
News from Capitol Hill
Science Advances from the NHLBI
- Study Improves Risk Prediction in Individuals with Long QT Syndrome
- Protein Linked to Parkinsonís Disease Found to Affect Fat Metabolism
- Hydroxyurea Proves Safe and Effective for Young Children with Sickle Cell Disease
- Broccoli Compound May Combat COPD
- Sirolimus Therapy Alleviates Symptoms of LAM
- New CPR Technique Benefits Cardiac Arrest Victims
News from Capitol Hill
Appropriations for Fiscal Year (FY) 2012
On December 23, 2011, the President signed into law H.R. 2055 (Public Law 112-74), an omnibus appropriations bill. The
law provides fiscal year 2012 funding for several Federal agencies, including $30,689,000,000 for the National Institutes
of Health. The law also establishes a new NIH center, the National Center for Advancing Translational Sciences (NCATS).
On November 14, 2011, the Senate passed a resolution (S. Res. 322), introduced by Senator Mike Crapo (R-ID), designating
November 2011 as Chronic Obstructive Pulmonary Disease (COPD) Awareness Month. The resolution encourages all people of the
United States to become more informed about COPD and get screened if they are at risk. It also encourages further partnership
between the Federal government and private entities to enhance patient education about COPD.
NHLBI Division of Lung Disease Director Speaks at Congressional Briefings
On October 11, 2011, Dr. James Kiley, Director of the Division of Lung Diseases, NHLBI, spoke at a congressional
briefing sponsored by the U.S. COPD Coalition. In addition to Dr. Kiley, speakers included Senator Mike Crapo (R-ID),
NHLBI grantee Dr. James Crapo, Dr. Wayne Giles, CDC, and Ms. Danica Patrick, the DRIVE4COPD Campaign Ambassador.
Dr. Kiley discussed research on COPD and the NHLBI-sponsored national COPD awareness campaign, COPD Learn More Breathe Betterģ.
On October 13, 2011, Dr. Kiley spoke at a congressional briefing sponsored by the Allergy and Asthma Network Mothers of
Asthmatics (AANMA). Representative Bill Cassidy (R-LA) and Representative Nita Lowey (D-NY), two of the co-chairs of the
Congressional Allergy and Asthma Caucus, also spoke at the event. Other speakers included Dr. Paul Garbe, CDC, and
Ms. Karen Myerson, Asthma Network of West Michigan.
Science Advances from the NHLBI
Study Improves Risk Prediction in Individuals with Long QT Syndrome
Researchers have discovered that certain genetic mutations found in patients with long QT syndrome type 1 (LQT1), a rare
genetic disorder that affects heart rhythm, are associated with a particularly high risk of sudden death. LQT1 can be caused
by a number of different mutations that affect an ion channel found on heart muscle cells. Although all LQT1 mutations affect
the same channel, their specific effects on channel function vary.
To determine how particular LQT1 mutations influence clinical outcomes, researchers gathered genetic and clinical data
from 387 patients with LQT1. They then measured the effects of 17 different LQT1 mutations on ion channel function and
correlated the findings with patient outcomes. Mutations that caused the ion channel to open more slowly than normal
were associated with a higher risk for sudden death than mutations that did not affect the rate of channel opening.
Currently, risk assessment for patients with LQT1 is based primarily on factors such as age, gender, and measurements of
the heartís electrical activity. The new findings on mutation-specific risk should enhance risk assessment for LQT1 patients
and provide doctors with additional information needed to identify patients who might benefit from closer follow-up and
more aggressive treatment.
Protein Linked to Parkinsonís Disease Found to Affect Fat Metabolism
A new study has shown that the protein Parkin, the product of a gene mutation that causes many early-onset cases of Parkinsonís
disease, regulates cellular uptake of dietary fat.
To study the potential role of Parkin in Parkinsonís disease, researchers created genetically modified mice lacking the
Parkin gene. Surprisingly, the mice did not display any obvious signs of Parkinsonís disease. However, they differed from
normal mice in one interesting respect: they did not gain weight as they aged or when fed a diet high in fat and cholesterol.
Follow-up experiments revealed that Parkin-deficient mice have lower levels of proteins responsible for the transport of
fat in the body.
The researchers went on to analyze cells from patients enrolled in the Parkinsonís Clinic at the NIH, and discovered that the
human cells also had a limited ability to absorb fat. Although it is not yet known how fat metabolism may be involved in the
development of Parkinsonís disease, the current study provides an important new avenue for understanding the disease.
Hydroxyurea Proves Safe and Effective for Young Children with Sickle Cell Disease
Results from a clinical trial indicate that hydroxyurea, a proven treatment for sickle cell disease (SCD) in adults, is
also safe and effective in very young children. Hydroxyurea reactivates production of fetal hemoglobin, which typically
is replaced by adult hemoglobin shortly after birth. Some people with SCD are able to produce normal fetal hemoglobin and
their red bloods cells show a reduced tendency to deform and clog blood vessels, with higher concentrations of normal fetal
hemoglobin being associated with less-severe disease.
The Pediatric Hydroxyurea Phase III Clinical Trial, known as BABY HUG, evaluated use of hydroxyurea in children 8 to 19
months of age. Hydroxyurea not only reduced pain episodes but also improved some measurements of spleen and kidney function
relative to placebo. Moreover, children who received hydroxyurea also had less risk of swelling of the hands and feet and
reduced incidence of acute chest syndrome, and they required fewer hospitalizations and fewer blood transfusions. All study
participants will be followed through 2016 to assess the long-term effects of the treatment.
Broccoli Compound May Combat COPD
A compound called sulforaphane, which is found in broccoli, has been shown to stimulate metabolic factors needed to help
COPD patients fight bacterial lung infections. Patients with COPD acquire lung infections due to a decreased ability of their
macrophages to engulf and remove bacteria. The infections cause exacerbations of COPD and are a major source of morbidity
NHLBI-funded investigators obtained macrophages from COPD patients and found that sulforaphane stimulated a factor called Nrf2,
which then enhanced the ability of the macrophages to recognize and eliminate both Haemophilus influenza and Pseudomonas aeruginosa,
two types of bacteria frequently associated with pulmonary infections. In addition, mice treated with sulforaphane had increased
Nrf2 levels, enhanced clearance of pulmonary bacteria, and decreased inflammation. The study results suggest that additional
research on sulforaphane and its properties could lead to improved treatment for patients with COPD.
Sirolimus Therapy Alleviates Symptoms of LAM
Investigators have found that sirolimus, a drug currently used to prevent transplant rejection, can improve lung function and quality of
life in individuals with the lung disease lymphangioleiomyomatosis (LAM).
LAM is a rare and progressive disease in which cancer-like cells infiltrate the lung, leading to shortness of breath, cough,
chest pain, and in many cases eventual respiratory failure. It affects almost exclusively women, primarily of child-bearing age.
Participants in the clinical study took daily oral doses of sirolimus or placebo over 12 months and had their lung function
measured at regular intervals. The sirolimus group had stable lung function during the treatment period, whereas lung function
declined about 12 percent in the placebo group. After stopping sirolimus, the rate of decline in lung function was similar in
both groups, suggesting that treatment effectiveness requires continued use.
The sirolimus group also showed other clinical improvements and reported a greater ability to carry out day-to-day functions
and a better quality of life, suggesting a possible role for sirolimus in treating LAM.
New CPR Technique Benefits Cardiac Arrest Victims
A new cardiopulmonary resuscitation (CPR) technique that simultaneously incorporates two devices developed with funding
from an NHLBI Small Business Innovation Research award has been shown to improve survival of people who experience cardiac
arrest outside of a hospital setting.
One device, a suction cup with a handle and force gauge, is applied to a victimís chest. The person performing CPR pulls
up on the handle to activate the suction cup, thereby ensuring that the chest rebounds fully after each chest compression in
the CPR routine. The second device, which attaches to a facemask or breathing tube, prevents excess air from surging back into
the lungs when the chest rebounds. When the devices are used together during CPR, blood flows more effectively to the heart and brain.
A recent clinical trial involving over 1,600 cardiac arrest victims compared standard CPR to CPR enhanced with both
devices. Nine percent of those assigned at random to the enhanced CPR technique survived and were discharged from the
hospital with good neurological function, as compared to six percent of those treated with standard CPR. The trial
provides evidence for a promising strategy for improving out-of-hospital outcomes for cardiac arrest victims.
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