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Related Experiment Videos

Apo C-II deficiency type Bari.

A Capurso1, F Resta, F Turturro

  • 1Chair of Geriatrics, University of Bari Medical School, Italy.

European Journal of Epidemiology
|May 1, 1992
PubMed
Summary
This summary is machine-generated.

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Apolipoprotein C-II (apo C-II) deficiency in an Italian family was linked to a gene mutation causing a premature stop codon. This results in a truncated, non-functional apo C-II protein, leading to impaired lipoprotein lipase (LPL) activation.

Area of Science:

  • Genetics
  • Biochemistry
  • Molecular Biology

Background:

  • Apolipoprotein C-II (apo C-II) deficiency is a rare genetic disorder characterized by hypertriglyceridemia.
  • Previous studies identified an Italian family with apo C-II deficiency, with two individuals exhibiting unmeasurable apo C-II levels and absent C-II bands on immunoelectrophoresis.
  • Intestinal synthesis of apo C-II was confirmed in the affected individuals using immunohistological techniques.

Purpose of the Study:

  • To investigate the molecular basis of apo C-II deficiency in the studied Italian family.
  • To identify the specific genetic mutation responsible for the observed apo C-II deficiency.
  • To explore the functional consequences of the identified mutation on apo C-II protein structure and activity.

Main Methods:

Related Experiment Videos

  • Southern analysis was performed to examine the apo C-II gene structure.
  • Polymerase chain reaction (PCR) amplification was used to amplify specific regions of the apo C-II gene.
  • DNA sequencing was conducted to identify point mutations within the gene.
  • Immunohistological techniques were used to assess protein synthesis.

    • Main Results:

    • A C to G transversion point mutation was identified in the third exon of the apo C-II gene in one proband.
    • This mutation resulted in a premature stop codon, leading to the synthesis of a truncated apo C-II protein (36 amino acids instead of 79).
    • The mutation abolished a Rsa I restriction site present in the normal gene sequence.

    Conclusions:

    • The identified mutation causes a truncated apo C-II protein lacking its functional domain, leading to impaired lipoprotein lipase (LPL) activation.
    • The truncated apo C-II protein is likely unstable, resulting in a higher catabolic rate and unmeasurable circulating levels.
    • A rapid Restriction Fragment Length Polymorphism (RFLP) assay targeting the destroyed Rsa I site is proposed for screening this apo C-II deficiency in the Italian population.