Three SNPs within the TOMM40 gene, one APOE promoter SNP and two SNPs within distal APOE enhancer elements (ME1 and BCR) predict CSF apoE levels. APOE ε4 genotype does not predict CSF apoE levels. Backward regression models were used to evaluate the influence of 21 SNPs, within and surrounding APOE, on CSF apoE levels while taking into account age, gender, APOE ε4 and correlation between SNPs (linkage disequilibrium). CSF apoE levels were measured from healthy non-demented subjects 21–87 years of age ( n = 134). The aim of this exploratory hypothesis generating investigation was to determine if some of these loci predict cerebrospinal fluid (CSF) apoE levels in healthy non-demented subjects. Multiple loci in and outside of APOE are associated with a high risk of AD. Other factors, such as expression level of apolipoprotein E protein (apoE), have been postulated to modify the APOE related risk of developing AD. And it- frankly, it makes me feel more human.The ε4 allele of the apolipoprotein E gene ( APOE) is associated with increased risk and earlier age at onset in late onset Alzheimer’s disease (AD). William Gahl: Well, it's inspirational to me, I mean, it's what keeps us going. Lara Logan: What's that like for you as a doctor and a as human being? And we see that in the way that people conduct themselves under these very difficult circumstances. There are certain epic things in life when you see another person die or another person give up a life for someone else. In other words, with a desperate disease. William Gahl: It's an incredible window into the human spirit to see people at this juncture. Gahl and his team confirmed he has a rare inflammatory disorder that they're trying to treat, but they may never find a cure. But uh, we don't have any great clues right now to pursue.Īt the moment, there are also no great clues for Bryce Bennett, but for Matthew Parker, there are some answers. William Gahl: Well, in a case like Christine's, we probably will continue for years because, as I say, another case might come along to inform this case. Lara Logan: How long will you continue to search for an answer with Christine? I mean, at which point do you say, you know, "We're never going to have anything for you?" She's still waiting, still hoping, but in the six months we have been following her case, the results have not been encouraging. But what price would you put on making a diagnosis for a family or a patient that has desperately sought one for years?Ĭhristine Davidson's case is more typical. I often tell the patients its taxpayers money at work. Lara Logan: So who pays if a patient comes to you and you accept them, who's paying the bill? But the second thing is, we're able to gather together a bunch of experts within a single room or within a single admission in a way that often can't be done in other places. And get done within one week what will often take a year or two on the outside. And that allows us to see patients for a week at a time as in-patients. William Gahl: We think there are a couple of things. Lara Logan: So what's unique about what you do here? Gahl has a small staff and a small budget - three and a half million dollars out of the billions the government spends on medical research here. William Gahl: So you have four siblings and your dad, and they are all available for us to get blood from them if we need it?Īs part of her evaluation, Christine must undergo a week of intense testing here at the Clinical Center of the National Institutes of Health.
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