J. Inher. Metab. Dis. 16 (1993) 280-283
© SSIEM and KluwerAcademicPublishers. Printed in the Netherlands
NCL Symposium
Ceroid, Lipofuscin and the Ceroid-
lipofuscinoses (Batten Disease)
R. D. JOLLY, R. R. DALEFIELDand D. N. PALMER
Department of Veterinary Pathology and Public Health, Massey University,
Palmerston North, New Zealand
LIPOPIGMENTS AND CEROID-LIPOFUSCINOSIS
The term lipopigment is a general one given to yellow-brown pigments that stain
with lipid stains and fluoresce under UV lights. Their terminology is confused and
there is a general lack of information concerning their biogenesis and significance.
In the 1970s there developed a perception that abnormal lipid peroxidation with
formation of Schiff-base-protein polymers was the unifying feature that linked these
pigments. This paper discusses three lipopigments with known associations and
demonstrates that lipid peroxidation is not a unifying feature.
The prototype pigment is lipofuscin (age pigment) first described 150 years ago.
Because of its ubiquity in cells of aged individuals, accumulation has been perceived
as a normal phenomenon. However, it is questionable whether lipofuscin is an age
pigment resulting from a genetic programme associated with the ageing process or
the result of cumulative environmental influences. In contrast to lipofuscin, the term
ceroid has been used to describe any pathological lipopigment, including the
lipopigment of ceroid-lipofuscinosis. Its continued use should be limited to those
pigments where there is observational or epidemiological evidence of degeneration
and/or peroxidation of lipid (Jolly and Dalefield 1990). Despite abundant evidence
for these features being involved in disease characterized by formation of ceroid,
its putative Schiff-base-protein polymeric nature is based merely on theoretical
expectations and not chemical analysis. A similar putative composition and biogenesis
for age pigment is based entirely on analogy and theoretical considerations. We have
questioned this by isolation and analysis of lipofuscin from the thyroid of variously
aged horses.
Results, which are to be published in detail elsewhere, are summarized as follows:
(1) Lipofuscin accumulated relative to age only up to maturity at 5 years. Thereafter
there was no quantitative relationship with age. (2) In horses under 5 years, heavy
pigmentation of individual follicles was associated with one of several abnormalities
of colloid, implying an association with abnormal cell function. (3) Isolated pigment
could mostly be solubilized and analysed, although technical difficulties were
encountered in extracting carbohydrate quantitatively. The chemical composition of
this pigment was variable between horses but its general composition by weight was
as follows: protein 30%; dolichol 6.4%; cholesterol 6.3%; phospholipid 1.3%; DNA
2.4%; metals 1.8%; halides (iodide) 5.1%; carbohydrate up to 36%. Most of the
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