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Introduction to histopathology
Introduction to histopathology

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3.3 Degenerative diseases and storage disorders

Cell loss occurs in many tissues with age; the effects are particularly notable in tissues that have a limited capacity for regeneration, such as nerves in the central nervous system, the retina of the eye and the sensory cells of the inner ear. Histologically, it is more difficult to identify something that is not there than a change in the structure of the tissues. In diseases such as Alzheimer's disease there is progressive loss of neurons and shrinkage of the brain, which may be more evident in the gross pathology, although counting the relative numbers of cells within an area can also give some histological indication of the cell loss. For example, the relative numbers of neurons relative to glial cells falls in areas affected by Alzheimer's disease. More evident are characteristic accumulations of proteins. Degenerating neurons leave tangles of fibres (neurofibrillary tangles) produced be degenerating components of the cytoskeleton. In addition there are extracellular accumulations of 'amyloid' within the brain. It is debated whether these deposits are the cause or consequence of the disease, or both.

Amyloid is an extracellular insoluble deposit of protein, and amyloidosis refers to the diseases in which amyloid occurs. In some cases production of amyloid is a primary event, and in others it is secondary to infection or a tumour. The actual protein type varies, depending on the cause of condition. In some cases it affects individual organs, such as the brain in Alzheimer's disease, but in the so-called 'systemic amyloidoses' many organs may be affected, including the lung, kidney, heart and spleen.

SAQ 6

What stain can be used to identify amyloid deposits in tissues?

Answer

Congo red, as mentioned in Histology (S120_2).

There are a number of hereditary conditions in which the person lacks enzymes that break down particular macromolecules; they are collectively called storage diseases because the components that cannot be degraded within lysosomes accumulate and form insoluble deposits. This is particularly noticeable in the brain, where they are often associated with neurodegenerative diseases (Figure 12).

Figure 12 Protein aggregates in brain cells associated with human degenerative diseases. Arrows highlight (a) extracellular plaques in prion disease, (b) extracellular plaques (blue) and neurofibrillary tangles (yellow) in Alzheimer's disease, (c) nuclear aggregates in Huntington's disease, (d) cytosolic aggregates known as 'Lewy bodies' in Parkinson's disease, (e) nuclear aggregates in amyotrophic lateral sclerosis and (f) accumulations of sphingolipids in the distended neurons of a patient with Niemann-Pick disease.