TDA revealed two large subgroups within the study population based solely on longitudinal MRI data. Topological data analysis (TDA), an unsupervised approach to multivariate pattern analysis, was applied to the longitudinal anatomical data to identify coherent but heretofore unknown subgroups. Participants included 42 very young boys with FXS who completed a T1-weighted anatomical MRI and cognitive/behavioral assessment at two longitudinal time points, with mean ages of 2.89 y and 4.91 y. We sought to examine early structural brain growth as a potential marker for identification of clinically meaningful subgroups. The cognitive, behavioral, and neurological phenotypes observed in affected individuals can vary considerably, making it difficult to predict outcomes and determine the need for interventions. We're continuing to follow these women and we're gathering data for hundreds of others around the world, with the goal of identifying the cause of peripartum cardiomyopathy in the remaining 85 percent of women with this condition, and ultimately using what we learn to improve the care of these women and their newborns.Fragile X syndrome (FXS), due to mutations of the FMR1 gene, is the most common known inherited cause of developmental disability. Though, more research is unquestionably needed. How the same mutations can lead to different conditions in different people remains an unanswered question.Īrany added, "these findings will certainly inform future peripartum cardiomyopathy research, with possible implications on genetic testing and preventive care. For example, a woman with the genetic mutation for dilated cardiomyopathy will not always experience peripartum cardiomyopathy, and women with the peripartum cardiomyopathy mutation will not always experience dilated cardiomyopathy later in life. However, the two diseases are not the same. This is similar to peripartum cardiomyopathy but most often occurs in older patients. The same mutations are also present in many who experienced dilated cardiomyopathy, a condition in which the heart's ability to pump blood is decreased when the main pumping chamber becomes weak and enlarged. This sizable percentage indicates that peripartum cardiomyopathy is caused by genetic mutations. However, this research shows that a mutation in the TTN gene is the cause of a significant number of peripartum cardiomyopathies, even in women without a family history of the disease." "There had been theories that it was linked to a viral infection, or paternal genes attacking the mother's circulatory system, or just the stresses of pregnancy. "Until now, we had very little insight into the cause of peripartum cardiomyopathy," said the study's senior author, Zoltan Arany, MD, PhD, an associate professor of Cardiovascular Medicine. Of the women analyzed, 26 were identified to have mutations on the TTN gene, an effect that is significantly higher than any other reported finding for the cause of peripartum cardiomyopathy. This protein-named after the Greek gods, Titans-is the largest protein in the body and directly affects the heart's ability to contract and relax. Researchers analyzed 43 genes in 172 women who experienced peripartum cardiomyopathy, and found that 15 percent of the group had genetic mutations, usually in their TTN gene, which encodes the instructions for making the Titin protein.
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