细胞身份丧失驱动人类衰老:两篇新论文
Loss of cell identity drives human aging: Two new papers

原始链接: https://erictopol.substack.com/p/loss-of-cell-identity-drives-human

两篇近期论文拓展了传统的“磨损耗竭”衰老模型,提出细胞在失去其特化身份时也会衰老。维持这种身份的是一个三层调控系统:快速的应激反应、较慢的状态变化,以及持久的染色质边界。这个较慢的层次主要依赖多梳抑制复合体2(PRC2),并将细胞稳定在其表观遗传“景观”中。 随着衰老,尤其是慢性炎症之后,这种景观会通过“去沟渠化”逐渐变浅,使细胞漂移到类似成纤维细胞的间充质状态。这种间充质漂移会促进纤维化和炎症,导致恢复能力下降,并推动动脉粥样硬化、黄斑变性、阿尔茨海默病和癌症等疾病的发展。作者提出,表观遗传时钟或许可以衡量PRC2相关染色质域被侵蚀的程度。 潜在的干预措施包括:通过热量限制维持染色质结构;使用OSKM或OSK因子进行部分重编程,以恢复年轻的细胞身份;以及使用锂,通过包括GSK3β和tau在内的通路保护神经元身份。然而,重编程存在致癌风险,而热量限制在人类中可能并不现实。糟糕饮食、缺乏活动和睡眠不足所造成的慢性压力,可能加速细胞身份丧失,因此,维持表观遗传身份可能成为延长健康寿命的重要目标。

一个 Hacker News 讨论串涉及两篇论文。这两篇论文认为,衰老可能主要由细胞身份丧失和表观遗传失调驱动,而不只是由累积的细胞损伤造成。评论者将胚胎发育视为衰老在某些方面可以被重置的证据,但强调成人年轻化要困难得多:DNA 突变、癌症风险、细胞类型特异性染色质变化,以及安全递送,仍然是主要障碍。 有些人认为,衰老是一种进化上的权衡,或者表观遗传变化可能是机体对损伤的反应,而非衰老的首要原因。讨论还涵盖了运动或热量限制带来的 hormesis、线粒体周转,以及 CRISPRon/off 等实验性靶向甲基化工具。有人提议将人工智能作为研究辅助工具,但同时也担忧其安全性、企业控制、就业影响和权力集中问题。 讨论逐渐延伸到长寿、死亡、压力、进化上的“目的”、历史上的生活水平、气候变化以及人工智能的生存风险,而且其中许多内容超出了这两篇论文所能证明的范围。
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原文

Two new papers, one published today in Nature by Vadim Gladyshev and colleagues at Harvard, and a recent one in Cell by Juan Carlos Izpisua Belmonte and his team at Altos Labs, have provided a new model for the biology of aging, and what might be done to reverse it. Until recently we accepted that aging of cells was due to “wear and tear” like rusting out a car. The idea that accumulated damage is the principal pathway for cell aging is now complemented by the loss of cell identity model. We don’t know the relative contribution or interdependence of these 2 models in the aging process.

In this edition of Ground Truths I’m going to explain the loss of cell identity, how it leads to mesenchymal drift (fibrous scarring and inflammation), and how this new model furthers the potential to intervene in the aging process.

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In embryonic and early development, our cells establish an identity. It’s locked in throughout our lives, except when it’s lost during the aging process. Although the DNA of every cell of our body is the same (or very close, if interested, see), the epigenetic structure, that includes methylation side chains, histones, nucleosomes and chromatin, is 3-dimensional and differs as a function of cell type. This is happening in the cell’s “mission control,” the nucleus. The epigenetic structure is the bedrock for our cell-specific identity.

There’s a 3-tier regulatory “grammar” that maintains the cell identity as shown below.(Figure from the Nature paper). The fast layer responds to acute stress in a matter of minutes to hours and relies on production of transcription factors, like AP-1. The intermediate layer takes days to weeks to respond, going through cell state transitions such as activating a cell to promote healing and return to its basal state. The key is the slow layer, he one that locks and insulates the cell identity, the hard boundary, relying on chromatin architecture.

That gets us to Waddington’s epigenetic landscape model for how cells differentiate or de-differentiate, a model that has held up well from Conrad Waddington in 1957! A cell sitting down in the valley (Figure below, culled together from the Nature paper) represents a distinct specialized cell. The deep slope indicates the robustness, also called canalization, accompanied by a deep basin, maintains the identity of the cell, promotes its stability. The differentiated cell is “staying in its lane” in the landscape model and is constrained from sliding out, shifting identity. But with aging, the valleys lose their slope, the basin becomes shallow, there is loss of epigenetic constraints, and there is instability of cell identity. That sets up drift of cell identity, or what can be regarded as mesenchymal drift.

Over the lifespan, as shown on the right side of the Figure below, after peak maturation with the specialized cells (brain, liver heart,kidney, etc) fully and irrevocably differentiated (peak functional state below), the valleys are losing slope and the basins are progressively getting shallower, known as decanalization. The problem is that there is no evolutionary pressure to keep the grooves, valleys and basin in their youthful state, because the “selection shadow” is a post-reproductive trajectory.

The polycomb repressive complex 2 (PRC2) can be seen as the sculptor of this epigenetic landscape, the molecular machinery that shapes the grooves, valleys, and basin. It establishes the hard boundary, the deep epigenetic constraints for cell identity.

Epigenetic clocks are remarkably informative across 348 mammalian species, including humans, for predicting maximal lifespan and life history, but we didn’t know what they are actually measuring. It turns out it’s PRC2, the pace of slow layer erosion! (Figure below, to be precise, it’s the PRC2 low-methylated regions).

PRC2 comes into play when there is chronic inflammation overriding the fast layer capacity to respond and blocking PRC2, leading to erosion of the Waddington landscape, promoting cell identity loss. Even after chronic inflammation is resolved, there are epigenetic changes in chromatin that can persist. This loss of epigenetic grammar can also be the foundation for cancer cells. Eventual erosion of the slow layer essentially portends architectural collapse of the Waddington landscape.

The mesenchymal state, as schematically shown below, in this example for an epithelial cell representative of all differentiated, specialized cells.

Now we turn to the Cell paper which goes deep on the mesenchymal drift. This denotes the change of cells to a mesenchymal state, resembling fibroblasts, engendering fibrous scar, laying down extracellular matrix, like mushy putty. It has been verified in 46 tissue types and is part and parcel of disease progression and poor outcomes, as shown below (Figure from the Cell paper). If you are checking for the tie-in between mesenchymal drift and age-related diseases, you’ll find them here, from atherosclerosis, to age-related macular degeneration, to Alzheimer’s disease.

Now that we have an enhanced understanding of the process, which has a positive feedback loop as depicted below, fibroblast sthat are activating in turn activating more fibroblasts to induce scarring (Figure from the Cell paper), how can we intervene to freeze the drift, avoid the slow layer erosion, and preserve the Waddington landscape, keeping cells locked in their designated identity? Or, even more ambitious, actually turn back the loss of erosion that has occurred?

Caloric restriction (CR), with its attendant reduced acetyl CoA, and reduced PRC2 methylation, promotes the preservation of slow layer architecture, conceptually freezing the drift. CR has been shown to promote lifespan in mammalian species but the results in non-human primates have been inconsistent, and the magnitude and duration of caloric restriction likely required in people is impractical. Still there may be, theoretically, a partial effect of avoidance of high caloric intake to help prevent erosion.

The use of the Yamanaka stem cell factors is the far-reaching intervention—rejuvenating cells— that has attracted the most attention and huge investment by biotech companies. But it’s tricky because it requires a brief exposure to the 4 transcription factors, OSKM (Oct-4, Sox2, Klf4, c-Myc), called “partial” epigenetic reprogramming, in order to avoid full reprogramming, which erases their memory and turns cells into pluripotent stem cells. That carries an increased risk for cancer. But partial reprogramming using short bursts, rejuvenation is seen, with restoration of cell identity in aged human fibroblasts (even from age 96 years) and in animal models. The slow layer is restored, the PRC2 domains are re-established, and the mesenchymal drift is actively reversed. An alternative to short exposure for partial reprogramming is the use of 3 transcription factors OSK (no c-Myc) which is being tested in a pilot study of patients with severe optic nerve damage using direct eye injection.

The Nature paper also gets into lithium as an intervention for maintaining neuron identity by interfering with the pathway of slow layer failure. I won’t get into the details of all the mediators (β-catenin, EDH2-USP7, KDM1A, REST, GSK3β, etc) but lithium’s impact on GSK3β blocks tau phosphorylation in experimental models. Lithium orotate has been raised as a candidate for preventing Alzheimer’s, as I’ve previously written about, and this mechanism may be operative.

There continues to be extraordinary progress in the science of aging. Beyond the old dogma that this is just the cumulative outgrowth of cell mutations and damage, we now understand the epigenetic basis: the loss of cell identity serves as both a driver and result of the aging process. The basic 3-tiered grammar is understood, as are the potential interventions to freeze the mesenchymal drift or directly restore (“rejuvenate”) cell identity. Whether the latter will be capable of safely bringing back the Waddington landscape and reverse aging in humans at the wheel body, organ, or tissue level, remains uncertain.

But we know that chronically stressing the fast layer can be detrimental for the integrity of the essential slow layer. It follows that lifestyle factors, like a pro-inflammatory diet, lack of exercise, or poor sleep quality, can be viewed as chronic stressors that could promote the slow layer erosion and accelerate the loss of cell identity.

The mesenchymal drift story, a fibroblast-like takeover due to loss of cell identity, is exceedingly important as an explanation for the incidence and progression of so many diseases. Slippage of identity can lay the foundation for a cell to become cancerous, yet another bad sequelae. Undoubtedly, loss of cell identity is a major underpinning of age-related diseases.

I was frankly surprised that the new Nature paper did not cite the prior Cell one, since the refined model had much of its basis previously described. Perhaps that was a simple oversight. If there is more interest in partial epigenetic reprogramming, I recommend 2 prior papers (here and here).

One practical takeaway from this work is finally knowing what the epigenetic clock is measuring. I interviewed Steven Horvath, the pioneer of epigenetic clocks when, not very long ago, it was unclear what information was being captured and how these clocks were so accurate. Now it is.

I have purposely omitted many details in this post to not lose the reader. That oversimplification may be disturbing to the epigeneticists. On the other hand, others will say this was above their head. It’s always hard to strike the right balance, especially for a complex topic like this, but I hope you found it helpful. If we are going to slow our aging process and extend our healthspan, understanding the biology will be essential.

NB. I wrote this post. No AI. I did use AI to generate three of the Figures as noted above to help the reader visualize what I was writing about. I have no conflicts of interest related to this topic or post.

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