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Mucolipidosis III is genetically heterogeneous

N K Honey, O T Mueller, L E Little

    Proceedings of the National Academy of Sciences of the United States of America
    |December 1, 1982
    PubMed
    Summary

    Genetic heterogeneity in Mucolipidosis III (ML III) was investigated using cell fusion. Three distinct complementation groups were identified, suggesting potential genetic variations within this childhood disorder.

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    Area of Science:

    • Biochemistry
    • Genetics
    • Cell Biology

    Background:

    • Mucolipidosis III (ML III), also known as pseudo-Hurler polydystrophy, is an inherited childhood disorder.
    • It is characterized by low activities and abnormal electrophoretic patterns of multiple lysosomal enzymes in fibroblasts.
    • The primary defect is thought to involve UDP-N-acetylglucosamine:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase, but variations exist.

    Purpose of the Study:

    • To investigate genetic heterogeneity within Mucolipidosis III.
    • To determine if different ML III cell lines represent distinct genetic disorders.

    Main Methods:

    • Complementation analysis was performed using fibroblast cell lines from ML III patients.
    • Heterokaryon cell fusions were generated by fusing ML III fibroblast lines.

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  • Correction of lysosomal enzyme activities and electrophoretic patterns was assessed after cell fusion.

    • Main Results:

    • Twelve fibroblast lines from 10 sibships were analyzed.
    • Three distinct complementation groups were identified.
    • One group represented classical ML III, a second was defined by a single cell line, and a third exhibited biochemical differences, suggesting a distinct disorder.

    Conclusions:

    • Mucolipidosis III exhibits genetic heterogeneity.
    • The identified complementation groups indicate at least three distinct genetic entities within ML III.
    • A third complementation group may represent a genetically distinct disorder separate from classical ML III.