Researchers at Mayo Clinic in Jacksonville have uncovered a toxic cellular process by which a protein that maintains the health of neurons becomes deficient and can lead to dementia. The findings shed new light on the link between culprits implicated in two devastating neurological diseases: frontotemporal dementia and amyotrophic lateral sclerosis, also known as Lou Gehrig’s disease. The study was published Dec. 10 in the online issue of Proceedings of the National Academy of Sciences.
There is no cure for frontotemporal dementia, a disorder that affects personality, behavior and language and is second only to Alzheimer’s disease as the most common form of early-onset dementia. While much research is devoted to understanding the role of each defective protein in these diseases, the team at Mayo Clinic took a new approach to examine the interplay between TDP-43, a protein that regulates messenger ribonucleic acid (mRNA) — biological molecules that carry the information of genes and are used by cells to guide protein synthesis — and sortilin, which regulates the protein progranulin.
The neuroscientists found that a lack of the protein TDP-43, long implicated in frontotemporal dementia and amyotrophic lateral sclerosis, leads to elevated levels of defective sortilin mRNA. The research team is the first to identify significantly elevated levels of the defective sortilin mRNA in autopsied human brain tissue of frontotemporal dementia/TDP cases, the most common subtype of the disease.
By improving the scientific community’s understanding of the biological processes leading to frontotemporal dementia, the researchers have also paved the way for the development of new therapies to prevent or combat the disease, says Leonard Petrucelli, chair of the Department of Neuroscience at Mayo Clinic in Florida, who led the research.
Drug cocktail helps breast cancer survival
Adding the drug trastuzumab to chemotherapy prevents cancer recurrence and improves survival in a large number of women with early stage HER2-positive breast cancer.
But trastuzumab does not stop tumors from returning in about 25 percent of patients. Oncologists haven’t been able to identify these women before treatment. This situation may soon change, according to a Mayo Clinic study recently presented at the 2012 CTRC-AACR San Antonio Breast Cancer Symposium.
A team of U.S. researchers, led by oncologists at Mayo Clinic’s campus in Jacksonville, has discovered 27 genes that are significantly associated with a good outcome as well as five other genes linked to a poor outcome using the same treatment regimen.
Results of their study offer a number of future potential benefits, said Edith Perez, deputy director at large of the Mayo Clinic Comprehensive Cancer Center and director of the Breast Cancer Translational Genomics Program at Mayo Clinic.
For example, the discovery may help scientists devise a genetic test that can help oncologists select the best treatment for their HER2-positive patients, she says.
Further analysis will illuminate the inner biological workings of individual HER2-positive tumors, which could provide clues for novel treatments, she added.
Duval physicians honored for care
Northeast Florida family physicians Daniel Lestage and Alan Lim were recognized recently by the American Academy of Family Physicians (AAFP) and the Florida Academy of Family Physicians (FAFP), for their excellence in patient care, continuing education, and service.
Lestage, of Jacksonville, received the Art of Medicine Award from the FAFP in recognition of belief — proven by personal example — that the patient receives the full benefit of total care only when the science of medicine is practiced as an art.
Lim, who practices in St. Johns County, earned the designation Degree of Fellow of the American Academy of Family Physicians (AAFP) from the national medical association representing more than 100,000 family physicians, residents, and medical students.
Criteria for receiving the Degree of Fellow consists of a minimum of six years membership in the AAFP, extensive continuing medical education, participation in public service programs outside medical practice, conducting in original research, and serving as an educator in family medicine.