Cell Injury, Cell Death, and Adaptations



Cell damage (also known as cell injury) is a variety of changes of stress that a cell suffers due to external as well as internal environmental changes. Amongst other causes, this can be due to physical, chemical, infectious, biological, nutritional or immunological factors.

CAUSES OF CELL INJURY: The causes of cell injury span a range from gross physical trauma, such as after a motor vehicle accident, to a single gene defect that results in a nonfunctional enzyme in a specific metabolic disease. Most injurious stimuli can be grouped into the following categories.

Hypoxia and ischemia: Hypoxia, which refers to oxygen deficiency, and ischemia, which means reduced blood supply, are among the most common causes of cell injury. Both deprive tissues of oxygen, and ischemia, in addition, results in a deficiency of essential nutrients and a buildup of toxic metabolites. The most common cause of hypoxia is ischemia resulting from an arterial obstruction, but oxygen deficiency also can result from inadequate oxygenation of the blood, as in a variety of diseases affecting the lung, or from reduction in the oxygen-carrying capacity of the blood, as with anemia of any cause, and carbon monoxide

(CO) poisoning.

Toxins: Potentially toxic agents are encountered daily in the environment; these include air pollutants, insecticides, CO, asbestos, cigarette smoke, ethanol, and drugs. Many drugs in therapeutic doses can cause cell or tissue injury in a susceptible patient or in many individuals if used excessively or inappropriately.

Infectious agents: All types of disease-causing pathogens, including viruses, bacteria, fungi, and protozoans, injure cells.

Immunologic reactions: Although the immune system defends the body against pathogenic microbes, immune reactions also can result in cell and tissue injury. Examples are autoimmune reactions against one’s own tissues, allergic reactions against environmental substances, and excessive or chronic immune responses to microbes.

In all of these situations, immune responses elicit inflammatory reactions, which are often the cause of damage to cells and tissues.

Genetic abnormalities Genetic aberrations can result in pathologic changes as conspicuous as the congenital malformations associated with Down syndrome or as subtle as the single amino acid substitution in hemoglobin giving rise to sickle cell anemia. Genetic defects may cause cell injury as a consequence of deficiency of functional proteins, such as enzymes in inborn errors of metabolism, or accumulation of damaged DNA or mis folded proteins, both of which trigger cell death when they are beyond repair.

Nutritional imbalances Protein–calorie insufficiency among impoverished populations remains a major cause of cell injury, and specific vitamin deficiencies are not uncommon even in developed countries with high standards of living. Ironically, excessive dietary intake may result in obesity and also is an important underlying factor in many diseases, such as type 2 diabetes mellitus and atherosclerosis.

Physical agents Trauma, extremes of temperature, radiation, electric shock, and sudden changes in atmospheric pressure all have wide-ranging effects on cells.

Aging Cellular senescence results in a diminished ability of cells to respond to stress and, eventually, the death of cells and of the organism.

SEQUENCE OF EVENTS IN CELL INJURY AND CELL DEATH

Although various injurious stimuli damage cells through diverse biochemical mechanisms, all tend to induce a stereotypic sequence of morphologic and structural alterations in most types of cells.

Reversible Cell Injury

Reversible injury is the stage of cell injury at which the deranged function and morphology of the injured cells can return to normal if the damaging stimulus is removed. In reversible injury, cells and intracellular organelles typically become swollen because they take in water as a result of the failure of energy-dependent ion pumps in the plasma membrane, leading to an inability to maintain ionic and fluid homeostasis. In some forms of injury, degenerated organelles and lipids may accumulate inside the injured cells.

 

MORPHOLOGY

The two main morphologic correlates of reversible cell injury are cellular swelling and fatty change.

Cellular swelling is commonly seen in cell injury associated with increased permeability of the plasma membrane. It may be difficult to appreciate with the light microscope, but it is often apparent at the level of the whole organ.

When it affects many cells in an organ, it causes pallor (as a result of compression of capillaries), increased turgor, and an increase in organ weight. Microscopic examination may show small, clear vacuoles within the cytoplasm; these represent distended and pinched-off segments of the endoplasmic reticulum (ER). This pattern of nonlethal injury is sometimes called hydropic change or vacuolar degeneration.

 

Fatty change is manifested by the appearance of triglyceride containing lipid vacuoles in the cytoplasm. It is principally encountered in organs that are involved in lipid metabolism, such as the liver.

The cytoplasm of injured cells also may become redder (eosinophilic), a change that becomes much more pronounced with progression to necrosis.

 

Other intracellular changes associated with cell injury include

(1)  Plasma membrane alterations such as blebbing (Blebs are protrusions of the cell membrane), blunting, or distortion of microvilli, and loosening of intercellular attachments.

(2) Mitochondrial changes such as swelling and the appearance of phospholipid-rich amorphous densities.

(3) Dilation of the ER with detachment of ribosomes and dissociation of polysomes, and

(4) Nuclear alterations, such as clumping of chromatin. The cytoplasm may contain so-called “myelin figures,” which are collections of phospholipids resembling myelin sheaths that are derived from damaged cellular membranes.

MECHANISMS OF CELL INJURY AND

CELL DEATH

Some general principles of cell injury should be emphasized.

The cellular response to injurious stimuli depends on the type of injury, its duration, and its severity. Thus, low doses of toxins or a brief period of ischemia may lead to reversible cell injury, whereas larger toxin doses or longer ischemic times may result in irreversible injury and cell death.

The consequences of an injurious stimulus also depend on the type, status, adaptability, and genetic makeup of the injured cell. The same injury has vastly different outcomes depending on the cell type. For instance, striated skeletal muscle in the leg tolerates complete ischemia for 2 to 3 hours without irreversible injury, whereas cardiac muscle dies after only 20 to 30 minutes of ischemia. The nutritional (or hormonal) status also can be important; understandably, a glycogen-replete hepatocyte will survive ischemia better than one that has just burned its last glucose molecule.

 

Genetically determined diversity in metabolic pathways can contribute to differences in responses to injurious stimuli. For instance, when exposed to the same dose of a toxin, individuals who inherit variants in genes encoding cytochrome P-450 may catabolize the toxin at different rates, leading to different outcomes. Much effort is now directed toward understanding the role of genetic polymorphisms in responses to drugs and toxins, (a field of study called pharmacogenomics) . In fact, genetic variations influence susceptibility to many complex diseases as well as responsiveness to various therapeutic agents. Using the genetic makeup of the individual patient to guide therapy is one example of “precision medicine.”

Cell injury usually results from functional and biochemical abnormalities in one or more of a limited number of essential cellular components (Fig. 2.15).

As we discuss in more detail later, different external insults and endogenous perturbations typically affect different cellular organelles and biochemical pathways.

For instance, deprivation of oxygen and nutrients (as

in hypoxia and ischemia) primarily impairs energy dependent cellular functions, culminating in necrosis, whereas damage to proteins and DNA triggers apoptosis.

 

However, it should be emphasized that the very same injurious agent may trigger multiple and overlapping biochemical pathways. Not surprisingly, therefore, it has proved difficult to prevent cell injury by targeting an individual pathway. As we discussed in the beginning of this chapter and have alluded to throughout, there are numerous and diverse causes of cell injury and cell death. Similarly, there are many biochemical pathways that can initiate the sequence of events that lead to cell injury and culminate in cell death. Some of these pathways are recognized to play important roles in human diseases.

 

In the following section, we organize our discussion of the mechanisms of cell injury along its major causes and pathways, and discuss the principal biochemical alterations in each. For the sake of clarity and simplicity, we emphasize the unique mechanisms in each pathway, but it is important to point out that any initiating trigger may activate one or more of these mechanisms, and several mechanisms may be active simultaneously.

 

INTRACELLULAR ACCUMULATIONS

Under some circumstances, cells may accumulate abnormal amounts of various substances, which may be harmless or may cause varying degrees of injury. The substance may be located in the cytoplasm, within organelles (typically lysosomes), or in the nucleus, and it may be synthesized by the affected cells or it may be produced elsewhere.

The main pathways of abnormal intracellular accumulations are inadequate removal and degradation or excessive production of an endogenous substance, or deposition of an abnormal exogenous material.

 

Selected examples of each are described as follows.

Fatty Change. Fatty change, also called steatosis, refers to any accumulation of triglycerides (Triglycerides are a type of fat (lipid) found in your blood) within parenchymal cells.

It is most often seen in the liver, since this is the major organ involved in fat metabolism, but also may occur in heart, skeletal muscle, kidney, and other organs.

Steatosis may be caused by toxins, protein malnutrition, diabetes mellitus, obesity, or anoxia. Alcohol abuse and diabetes associated with obesity are the most common causes of fatty change in the liver (fatty liver) in industrialized nations.

Cholesterol and Cholesteryl Esters.

Cellular cholesterol metabolism is tightly regulated to ensure normal generation of cell membranes (in which cholesterol is a key component) without significant intracellular accumulation. However, phagocytic cells may become overloaded with lipid (triglycerides, cholesterol, and cholesteryl esters) in several different pathologic processes, mostly characterized by increased intake or decreased catabolism of lipids. Of these, atherosclerosis is the most important.

Proteins. Morphologically visible protein accumulations are less common than lipid accumulations; they may occur when excesses are presented to the cells or if the cells

synthesize excessive amounts. In the kidney, for example, trace amounts of albumin filtered through the glomerulus are normally reabsorbed by pinocytosis in the proximal convoluted tubules. However, in disorders with heavy protein leakage across the glomerular filter (e.g., nephrotic syndrome), much more of the protein is reabsorbed, and vesicles containing this protein accumulate, giving the histologic appearance of pink, hyaline cytoplasmic droplets. The process is reversible: if the proteinuria abates, the protein droplets are metabolized and disappear. Another example is the marked accumulation of newly synthesized immunoglobulins that may occur in the RER of some plasma cells, forming rounded, eosinophilic Russell bodies.

Glycogen. Excessive intracellular deposits of glycogen are associated with abnormalities in the metabolism of either glucose or glycogen. In poorly controlled diabetes mellitus, the prime example of abnormal glucose metabolism, glycogen accumulates in renal tubular epithelium, cardiac myocytes, and β cells of the islets of Langerhans. Glycogen also accumulates within cells in a group of related genetic disorders collectively referred to as glycogen storage diseases, or glycogenoses.

Pigments. Pigments are colored substances that are either exogenous, coming from outside the body, such as carbon, or are endogenous, synthesized within the body itself, such as lipofuscin, melanin, and certain derivatives of hemoglobin.

The most common exogenous pigment is carbon, a ubiquitous air pollutant of urban life. When inhaled, it is phagocytosed by alveolar macrophages and transported through lymphatic channels to the regional tracheobronchial lymph nodes. Aggregates of the pigment blacken the draining lymph nodes and pulmonary parenchyma (anthracosis).

Lipofuscin, or “wear-and-tear pigment,” is an insoluble brownish-yellow granular intracellular material that accumulates in a variety of tissues (particularly the heart, liver, and brain) with aging or atrophy. Lipofuscin represents complexes of lipid and protein that are produced by the free radical–catalyzed peroxidation of polyunsaturated lipids of subcellular membranes. It is not injurious to the cell but is a marker of past free radical injury. The brown pigment , when present in large amounts, imparts an appearance to the tissue that is called brown atrophy.

Melanin is an endogenous, brown-black pigment that is synthesized by melanocytes located in the epidermis and acts as a screen against harmful UV radiation. Although melanocytes are the only source of melanin, adjacent basal keratinocytes in the skin can accumulate the pigment (e.g., in freckles), as can dermal macrophages.

Hemosiderin is a hemoglobin-derived granular pigment that is golden yellow to brown and accumulates in tissues when there is a local or systemic excess of iron. Iron is normally stored within cells in association with the protein apoferritin, forming ferritin micelles. Hemosiderin pigment represents large aggregates of these

ferritin micelles, readily visualized by light and electron microscopy; the iron can be unambiguously identified by the Prussian blue histochemical reaction. Although hemosiderin accumulation is usually pathologic, small amounts of this pigment are normal in the mononuclear phagocytes of the bone marrow, spleen, and liver, where aging red cells are normally degraded. Excessive deposition of hemosiderin, called hemosiderosis, and more extensive accumulations of iron seen in hereditary hemochromatosis.

CELLULAR ADAPTATIONS TO STRESS

Adaptations are reversible changes in the number, size, phenotype, metabolic activity, or functions of cells in response to changes in their environment. Physiologic adaptations usually represent responses of cells to normal stimulation by hormones or endogenous chemical mediators (e.g., the hormone-induced enlargement of the breast and uterus during pregnancy), or to the demands of mechanical stress (in the case of bones and muscles). Pathologic adaptations are responses to stress that allow cells to modulate their structure and function and thus escape injury, but at the expense of normal function, such as squamous metaplasia of bronchial epithelium in smokers. Physiologic and pathologic adaptations can take several distinct forms, as described in the following text.

Hypertrophy

Hypertrophy is an increase in the size of cells resulting in an increase in the size of the organ. In contrast, hyperplasia (discussed next) is an increase in cell number. Stated another way, in pure hypertrophy there are no new cells, just bigger cells containing increased amounts of structural proteins and organelles. Hyperplasia is an adaptive response in cells capable of replication, whereas hypertrophy occurs when cells have a limited capacity to divide.

Hypertrophy and hyperplasia also can occur together, and obviously both result in an enlarged organ. Hypertrophy can be physiologic or pathologic and is caused either by increased functional demand or by growth factor or hormonal stimulation.

• The massive physiologic enlargement of the uterus during pregnancy occurs as a consequence of estrogenstimulated smooth muscle hypertrophy and smooth muscle hyperplasia. In contrast, in response to increased workload the striated muscle cells in both the skeletal muscle and the heart undergo only hypertrophy because adult muscle cells have a limited capacity to divide. Therefore, the chiseled physique of the avid weightlifter stems solely from the hypertrophy of individual skeletal muscles.

• An example of pathologic hypertrophy is the cardiac enlargement that occurs with hypertension or aortic valve disease. The differences between normal, adapted, and irreversibly injured cells are illustrated by the responses of the heart to different types of

stress. Myocardium subjected to a persistently increased workload, as in hypertension or with a narrowed (stenotic) valve, adapts by undergoing hypertrophy to generate the required higher contractile force. If, on the other hand, the myocardium is subjected to reduced blood flow (ischemia) due to an occluded coronary artery, the muscle cells may undergo injury.

The mechanisms driving cardiac hypertrophy involve at least two types of signals: mechanical triggers, such as stretch, and soluble mediators that stimulate cell growth, such as growth factors and adrenergic hormones. These stimuli turn on signal transduction pathways that lead to

the induction of a number of genes, which in turn stimulate synthesis of many cellular proteins, including growth factors and structural proteins. The result is the synthesis of more proteins and myofilaments per cell, which increases the force generated with each contraction, enabling the cell to meet increased work demands. There may also be a switch of contractile proteins from adult to fetal or neonatal forms. For example, during muscle hypertrophy, the α-myosin heavy chain is replaced by the fetal β form of the myosin heavy chain, which produces slower, more energetically economical contraction.

An adaptation to stress such as hypertrophy can progress to functionally significant cell injury if the stress is not relieved. Whatever the cause of hypertrophy, a limit is reached beyond which the enlargement of muscle mass can no longer compensate for the increased burden. When this happens in the heart, several degenerative changes occur in the myocardial fibers, of which the most important are fragmentation and loss of myofibrillar contractile elements.

Why hypertrophy progresses to these regressive changes is incompletely understood. There may be finite limits on the abilities of the vasculature to adequately supply the enlarged fibers, the mitochondria to supply ATP, or the biosynthetic machinery to provide sufficient contractile proteins or other cytoskeletal elements. The net result of these degenerative changes is ventricular dilation and ultimately cardiac failure.

Hyperplasia

Hyperplasia is an increase in the number of cells in an organ that stems from increased proliferation, either of differentiated cells or, in some instances, less differentiated progenitor cells. As discussed earlier, hyperplasia takes place if the tissue contains cell populations capable of replication; it may occur concurrently with hypertrophy and often in response to the same stimuli.

Hyperplasia can be physiologic or pathologic; in both situations, cellular proliferation is stimulated by growth factors that are produced by a variety of cell types.

• The two types of physiologic hyperplasia are (1) hormonal hyperplasia, exemplified by the proliferation of the glandular epithelium of the female breast at puberty and during pregnancy, and (2) compensatory hyperplasia, in which residual tissue grows after removal or loss of part of an organ. For example, when part of a liver is resected, mitotic activity in the remaining cells begins as

early as 12 hours later, eventually restoring the liver to its normal size. The stimuli for hyperplasia in this setting are polypeptide growth factors produced by uninjured hepatocytes as well as nonparenchymal cells in the liver. After restoration of the liver mass, various growth inhibitors turn off cell proliferation.

• Most forms of pathologic hyperplasia are caused by excessive hormonal or growth factor stimulation. For example, after a normal menstrual period there is a burst of uterine epithelial proliferation that is normally tightly regulated by the stimulatory effects of pituitary hormones and ovarian estrogen and the inhibitory effects of progesterone. A disturbance in this balance leading to increased estrogenic stimulation causes endometrial hyperplasia, which is a common cause of abnormal menstrual bleeding. Benign prostatic hyperplasia is another common example of pathologic hyperplasia induced in responses to hormonal stimulation by androgens. Stimulation by growth factors also is involved in the hyperplasia that is associated with certain viral infections; for example, papillomaviruses cause skin warts and mucosal lesions that are composed of masses of hyperplastic epithelium. Here the growth factors may be encoded by viral genes or by the genes of the infected host cells. An important point is that in all of these situations, the hyperplastic process remains controlled; if the signals that initiate it abate, the hyperplasia disappears. It is this responsiveness to normal regulatory control mechanisms that distinguishes pathologic hyperplasias from cancer, in which the growth control mechanisms become permanently dysregulated or ineffective. Nevertheless, in many cases, pathologic hyperplasia constitutes a fertile soil in which cancers may eventually arise. For example, patients with hyperplasia of the endometrium are at increased risk of developing endometrial cancer.

Atrophy

Atrophy is shrinkage in the size of cells by the loss of cell substance. When a sufficient number of cells are involved, the entire tissue or organ is reduced in size, or atrophic. Although atrophic cells may have diminished function, they are not dead. Causes of atrophy include a decreased workload (e.g., immobilization of a limb to permit healing of a fracture), loss of innervation, diminished blood supply, inadequate nutrition, loss of endocrine stimulation, and aging (senile atrophy). Although some of these stimuli are physiologic (e.g., the loss of hormone stimulation in menopause) and others are pathologic (e.g., denervation), the fundamental cellular changes are similar. They represent a retreat by the cell to a smaller size at which survival is still possible; a new equilibrium is achieved between cell size and diminished blood supply, nutrition, or trophic stimulation.

Cellular atrophy results from a combination of decreased protein synthesis and increased protein degradation.

• Protein synthesis decreases because of reduced metabolic activity.

• The degradation of cellular proteins occurs mainly by the ubiquitin-proteasome pathway. Nutrient deficiency and disuse may activate ubiquitin ligases, which attach multiple copies of the small peptide ubiquitin to cellular proteins and target them for degradation in proteasomes.

This pathway is also thought to be responsible for the accelerated proteolysis seen in a variety of catabolic conditions, including the cachexia associated with cancer.

• In many situations, atrophy also is associated with autophagy, with resulting increases in the number of autophagic vacuoles. As discussed previously, autophagy is the process in which the starved cell eats its own organelles in an attempt to survive.

Metaplasia

Metaplasia is a change in which one adult cell type (epithelial or mesenchymal) is replaced by another adult cell type. In this type of cellular adaptation, a cell type sensitive to a particular stress is replaced by another cell type better able to withstand the adverse environment. Metaplasia is thought to arise by the reprogramming of stem cells

to differentiate along a new pathway rather than a phenotypic change (transdifferentiation) of already differentiated cells.

Epithelial metaplasia is exemplified by the change that occurs in the respiratory epithelium of habitual cigarette smokers, in whom the normal ciliated columnar epithelial cells of the trachea and bronchi often are replaced by stratified squamous epithelial cells (Fig. 2.23). The rugged stratified squamous epithelium may be able to survive the noxious chemicals in cigarette smoke that the more fragile specialized epithelium would not tolerate. Although the metaplastic squamous epithelium has survival advantages, important protective mechanisms are lost, such as mucus secretion and ciliary clearance of particulate matter. Epithelial metaplasia is therefore a double-edged sword. Because vitamin A is essential for normal epithelial differentiation, its deficiency also may induce squamous metaplasia in the respiratory epithelium.

Metaplasia need not always occur in the direction of columnar to squamous epithelium; in chronic gastric reflux, the normal stratified squamous epithelium of the lower esophagus may undergo metaplastic transformation to gastric or intestinal-type columnar epithelium. Metaplasia also may occur in mesenchymal cells, but in these situations it is generally a reaction to some pathologic alteration and not an adaptive response to stress. For example, bone is occasionally formed in soft tissues, particularly in foci of injury.

The influences that induce metaplastic change in an epithelium, if persistent, may predispose to malignant transformation. In fact, squamous metaplasia of the respiratory epithelium often coexists with lung cancers composed of malignant squamous cells. It is thought that cigarette smoking initially causes squamous metaplasia, and cancers arise later in some of these altered foci.