February 1, 1992Journal of Clinical InvestigationOpen Access

Molecular studies on primary lipoprotein lipase (LPL) deficiency. One base deletion (G916) in exon 5 of LPL gene causes no detectable LPL protein due to the absence of LPL mRNA transcript.

View Full Paper

Ask AI

Bookmark

Structured PICO

Population

A proband and his affected brother with primary lipoprotein lipase (LPL) deficiency manifesting familial hyperchylomicronemia, along with their family members.

Intervention

Molecular and genetic analysis (immunocytochemical and biosynthetic studies, Northern blot, Southern blot, PCR, and sequence analysis).

Comparator

Normal cells and control subjects.

Outcome

Identification of the genetic defect responsible for primary LPL deficiency.surrogate

Primary LPL deficiency in these patients is caused by a novel one base deletion (G916) in exon 5 of the LPL gene, leading to absent LPL mRNA and protein.

Discussion

No takes yet. Share an insight, caveat, or question.

Implication

Hypothesis-generating for LPL deficiency genetics; leaves open validation before diagnostic or therapeutic application.

Cite This Study

Takagi et al. (1992) studied this question.

synapsesocial.com/papers/6a7a73851ba4614d7ff3e98f https://doi.org/10.1172/jci115624

View Full Paper

Ask AI

Bookmark

Molecular studies on primary lipoprotein lipase (LPL) deficiency. One base deletion (G916) in exon 5 of LPL gene causes no detectable LPL protein due to the absence of LPL mRNA transcript.

Structured PICO

Discussion

Implication

Cite This Study

Molecular studies on primary lipoprotein lipase (LPL) deficiency. One base deletion (G916) in exon 5 of LPL gene causes no detectable LPL protein due to the absence of LPL mRNA transcript.

Structured PICO

Discussion

Implication

Cite This Study

Also Consider

Also Consider