Every person’s genetic blueprint, or genome, is unique because of variations that occasionally occur in our DNA sequences. Most of those are passed on to us from our parents. But not all variations are inherited—each of us carries 60 to 100 “new mutations” that happened for the first time in us. Some of those variations can knock out the function of a gene in ways that lead to disease or other serious health problems, particularly in people unlucky enough to have two malfunctioning copies of the same gene. Recently, scientists have begun to identify rare individuals who have loss-of-function variations that actually seem to improve their health—extraordinary discoveries that may help us understand how genes work as well as yield promising new drug targets that may benefit everyone.
In a study published in the journal Nature, a team partially funded by NIH sequenced all 18,000 protein-coding genes in more than 10,500 adults living in Pakistan . After finding that more than 17 percent of the participants had at least one gene completely “knocked out,” researchers could set about analyzing what consequences—good, bad, or neutral—those loss-of-function variations had on their health and well-being.
Up next in our scientific film fest is an original music video, straight from the Big Apple. Created by researchers at The Rockefeller University, this song-and-dance routine provides an entertaining—and informative—look at how blood clots form, their role in causing heart attacks, and what approaches are being tried to break up these clots.
Before (or after!) you hit “play,” it might help to take a few moments to review the scientists’ description of their efforts: the key to saving the lives of heart attack victims lies in the molecules that control how blood vessels become clogged. This molecular biomedicine music video explains how ischemic injury can be prevented shortly after heart attack symptoms begin: clot blocking. The science is the collaborative work of Dr. Barry Coller of Rockefeller, Dr. Craig Thomas and his colleagues at the National Center for Advancing Translational Sciences (NCATS), and Dr. Marta Filizola and her Mount Sinai colleagues.
Caption: Micrograph of laboratory-grown rat heart muscle cells. Fluorescent labeling shows mitochondria (red), cytoskeleton (green), and nuclei (blue). Credit: Credit: Douglas B. Cowan and James D. McCully, Harvard Medical School, Boston
This may not look like your average Valentine’s Day card, but it’s an image sure to warm the hearts of many doctors and patients. Why? This micrograph, a winner in the Federation of American Societies for Experimental Biology’s 2013 BioArt Competition, shows cells that have been specially engineered to repair the damage done by heart attacks—which strike more than 700,000 Americans every year.
Working with rat heart muscle cells grown in a lab dish, NIH-supported bioengineers at Harvard Medical School used transplant techniques to boost the number of tiny powerhouses, called mitochondria, within the cells. If you look closely at the image above, you’ll see the heart muscle cells are tagged in green, their nuclei in blue, and their mitochondria in red.
It’s pretty amazing to me that we’re still discovering new uses for a drug as old as aspirin. The active metabolite of aspirin—salicylic acid—has been used to treat ailments for several millennia. In fact, the ancient Egyptians and Greeks even used teas and other potions brewed from the bark of the willow tree, which is rich in salicylic acid, to treat their fevers, headaches, and pains.
Today, as many of you may already know, low-dose aspirin can play a key role preventing heart attacks and strokes; it’s often prescribed as a daily therapy for people who’ve suffered a heart attack or are at high risk of one. But it doesn’t stop there. Scientists are now exploring whether this pharmaceutical multitasker can also suppress cancer.
In recent trials, researchers have been testing aspirin for people with colon or colorectal cancer, the third most deadly cancer in the United States. However, they weren’t sure who would benefit. Recently, NIH-supported researchers based in Boston showed that taking aspirin boosted survival among patients diagnosed with colon cancer. But here’s the 21st century catch: the aspirin only had an impact in the 15-20% of patients whose tumors carried a mutation in the PIK3CA gene. (Note: This is not a mutation we inherit from our parents, it is a harmful mutation that arises spontaneously in tumors during the course of cancer development.)