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Bone morphogenetic protein receptor-II mutation Arg491Trp causes malignant phenotype of familial primary pulmonary

Jing Zhicheng1, Lu Lihe, Han Zhiyan

  • 1Department of Cardiololgy, Fu Wai Heart Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, No.167 Beilishilu, Beijing 100037, China.

Biochemical and Biophysical Research Communications
|February 27, 2004
PubMed

Insights

A novel BMPR-II gene mutation, Arg491Trp, was identified in a family with primary pulmonary hypertension. This finding advances understanding of familial pulmonary hypertension genetics and potential therapeutic targets.

Area of Science:

  • Genetics
  • Cardiovascular Medicine
  • Molecular Biology

Background:

  • Familial primary pulmonary hypertension (FPPH) is a rare, severe condition.
  • Genetic factors play a significant role in FPPH pathogenesis.
  • The bone morphogenetic protein receptor-II (BMPR-II) gene is a key candidate in FPPH.

Purpose of the Study:

  • To identify genetic mutations associated with FPPH in a multi-generational family.
  • To investigate the role of the BMPR-II gene in the identified FPPH cases.
  • To analyze the segregation and prevalence of identified mutations.

Main Methods:

  • Pedigree analysis of a four-generation family with 14 living members.
  • DNA sequencing to screen for mutations in the BMPR-II gene.
  • Exclusion analysis in sporadic primary pulmonary hypertension patients and normal individuals.

Main Results:

  • A C-to-T transition in exon 11 of the BMPR-II gene was identified, causing an Arg491Trp mutation.
  • This Arg491Trp mutation segregated with FPPH within the family.
  • No BMPR-II mutations were found in sporadic primary pulmonary hypertension cases or 240 normal chromosomes.
  • The mutation is located in the kinase domain, potentially affecting BMPR-II function.

Conclusions:

  • The identified Arg491Trp mutation in the BMPR-II gene is strongly associated with familial primary pulmonary hypertension.
  • This discovery provides a specific genetic marker for FPPH in this family.
  • Further research is needed to understand the impact of modifiers on clinical phenotype variability.

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