September is World Alzheimer’s Month. Recent evidence suggests that biomarkers measurable in the cerebrospinal fluid that bathes our central nervous system are extremely accurate in the diagnosis of current (and future) Alzheimer’s disease. There is a certain pyrrhic nature to the victory here, as there is no currently available treatment that can reverse or effectively prevent the disease. It seems that by the time the disease becomes clinically manifest, the damage may have been done—the neurogenerative changes have already taken place, and the markers being measured are indicative that the degenerative changes have already begun. It is for this reason, that genetic markers raise the potential, and hope, for earlier detection. In the case of Alzheimer’s, aside for some very rare markers, the most well-known genetic association is with the Aplipoprotein E4 allele. However, not all ApoE4 carriers develop the disease, and not everyone with the disease carries that allele.
At the Florida Heart Research Institute (FHRI), we have had a long-term interest in and commitment to early detection and prevention of cardiovascular disease. Fortunately, even though it is true that once heart disease becomes clinically manifest, there has been a degenerative process occurring in our vessels for quite some time, the opportunity exists to halt the progression, as well as, in some cases, to even reverse some of the damage. For this reason we have been proactive in cardiovascular risk screening of asymptomatic individuals in order to better define their risk of developing clinical disease. In the case of heart disease, unlike that of Alzheimer’s, knowledge of those risk factors can result in empowerment to halt whatever disease may be present, and to very likely prevent a clinical problem. Incredible! The leading killer of men and women in this country, and the disease is to a very large degree preventable!!
Along with our active program of risk screening and education, FHRI has also had a long-standing scientific interest in cardiovascular genetics. Since, for example, over a quarter of a million Americans die each year of sudden cardiac death, many of whom had no prior cardiac symptoms, the ability to discover genetic determinants of disease would clearly add a further powerful layer of defense to our preventive strategy. We have thus been actively engaged in projects exploring the genetic basis of sudden cardiac death, as well as of certain forms of congestive heart failure. Certainly, the release of the findings of the Human Genome Project a decade ago gave much impetus to the hope of uncovering the hidden genetic basis of human disease. Powerful computer processing capabilities and sophisticated statistical modeling have permitted genome wide association studies in large populations which have the ability to integrate billions of bytes of information into a coherent picture of genetic risk. The results? As enlightening and sometimes surprising as the findings have been, there is one pervasive theme which appears to have eluded the genetic enthusiasts—most discoveries, no matter how well-founded, describe a remarkably small contribution to the actual general risk of disease. As noted for Alzheimer’s, not everyone with the genetic marker has the disease, and most with the disease do not have the genetic marker. The simple fact remains that most diseases, certainly cardiovascular disease, and likely Alzheimer’s as well, are a complex array of multiple interactions of genetic substrate with environmental response and human behavior. Even, or perhaps especially, all genetic information is subject to a complex array of control mechanisms which permit the organism in which they exist to adapt to environmental stimuli with an variety of responses which will contribute to how that genetic information is expressed. Simply put, we are much more the products of our actions than we are of our genes. It is for this reason that education regarding risk and opportunities for life-style changes can prove to be lifesaving measures, regardless of—and in some cases because of—our genes.
September is World Alzheimer’s Month. Recent evidence suggests that biomarkers measurable in the cerebrospinal fluid that bathes our central nervous system are extremely accurate in the diagnosis of current (and future) Alzheimer’s disease. There is a certain pyrrhic nature to the victory here, as there is no currently available treatment that can reverse or effectively prevent the disease. It seems that by the time the disease becomes clinically manifest, the damage may have been done—the neurogenerative changes have already taken place, and the markers being measured are indicative that the degenerative changes have already begun. It is for this reason, that genetic markers raise the potential, and hope, for earlier detection. In the case of Alzheimer’s, aside for some very rare markers, the most well-known genetic association is with the Aplipoprotein E4 allele. However, not all ApoE4 carriers develop the disease, and not everyone with the disease carries that allele.
