A Novel PUS1 Mutation in 2 Siblings with MLASA Syndrome: A Review of the Literature

Oncul U., İNCE E., KULOĞLU Z., Teber-Tiras S., KAYGUSUZ G., EMİNOĞLU F. T.

JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY, cilt.43, sa.4, 2021 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Derleme
  • Cilt numarası: 43 Sayı: 4
  • Basım Tarihi: 2021
  • Doi Numarası: 10.1097/mph.0000000000001806
  • Dergi Adı: JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, CAB Abstracts, EMBASE, MEDLINE
  • Anahtar Kelimeler: PUS1, MLASA, mitochondrial disorder, sideroblastic anemia, lactic acidosis, chronic diarrhea, SIDEROBLASTIC ANEMIA, LACTIC-ACIDOSIS, MITOCHONDRIAL MYOPATHY, IDENTIFICATION, HETEROGENEITY, YARS2
  • Ankara Üniversitesi Adresli: Evet

Özet

Myopathy, lactic acidosis, and sideroblastic anemia (MLASA) is a rare mitochondrial disorder characterized by MLASA. Variable features of this condition include failure to thrive, and developmental delay or intellectual disability. Additional symptoms consist of cognitive impairment, skeletal and dental abnormalities, delayed motor milestones, cardiomyopathy, dysphagia, and respiratory insufficiency. MLASA has previously been associated with mutations in pseudouridylate synthase 1 (PUS1) and YARS2. PUS1 encodes the nuclear PUS1 enzyme, which is located in both the nucleus and the mitochondria. PUS1 converts uridine into pseudouridine in several cytosolic and mitochondrial transfer RNA positions and increases the efficiency of protein synthesis in both compartments.