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Severe pulmonary arterial hypertension in congenital sideroblastic anemia from PUS1 mutation - a case report

Shyam S Kothari1, Jayal Shah2, Vishal Sharma2

  • 1UN Mehta cardiology institute and research centre, Ahmedabad, India. Kothariss100@gmail.com.

BMC Medical Genomics
|August 15, 2024
PubMed
Abstract

Insights

Severe pulmonary arterial hypertension is a newly identified complication in patients with PUS1 gene mutations, which cause myopathy, lactic acidosis, and inherited sideroblastic anemia (MLASA). This finding may suggest novel therapeutic targets for MLASA patients.

Area of Science:

  • Genetics
  • Molecular Biology
  • Hematology

Background:

  • Myopathy, lactic acidosis, and inherited sideroblastic anemia (MLASA) are rare genetic disorders.
  • Mutations in the PUS1 gene, encoding pseudouridine synthase, are a known cause of MLASA, primarily affecting anemia and myopathy.
  • Severe pulmonary arterial hypertension (PAH) has not been previously associated with PUS1 mutations.

Observation:

  • A 17-year-old female with congenital sideroblastic anemia presented with progressive dyspnea.
  • Investigations confirmed severe pulmonary arterial hypertension.
  • Genetic analysis revealed a homozygous PUS1 gene variant (c.430C>T).

Findings:

  • This case documents severe pulmonary arterial hypertension in a patient with congenital sideroblastic anemia due to a PUS1 gene mutation.
  • The identified mutation was a homozygous variant in exon 3 of the PUS1 gene.

Implications:

  • The PUS1 mutation may contribute to severe PAH through potential crosstalk with TGF-beta pathways.
  • This observation could lead to new therapeutic strategies for patients with PUS1-related disorders.
  • Further research into the molecular mechanisms linking PUS1 mutations and PAH is warranted.
Keywords:
GeneticsMLASAMitochondriaPulmonary hypertension

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