ArticleAmerican journal of human genetics2002
GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L.
Article in American journal of human genetics, 2002. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 87 papers.
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87 citing papers in PubMed, 294 citations in OpenAlex.
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- Protective Effect of Astaxanthin on Yeast Cells with Defects in Mitochondrial Function under Oxidative Stress and Aging.Current microbiology · 2026Article
- Hepatic gene replacement improves energy metabolism and survival in a mouse model of neonatal mitochondrial disease GRACILE syndrome.Molecular therapy : the journal of the American Society of Gene Therapy · 2026Article
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- From Beach to the Bedside: Harnessing Mitochondrial Function in Human Diseases Using New Marine-Derived Strategies.International journal of molecular sciences · 2024Review
- Only One of Three Bcs1 Homologs inJournal of fungi (Basel, Switzerland) · 2023Article
- Mitochondrial complex III deficiency drives c-MYC overexpression and illicit cell cycle entry leading to senescence and segmental progeria.Nature communications · 2023Article
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- Genetic spectrum of prenatally diagnosed skeletal dysplasias in a Finnish patient cohort.Prenatal diagnosis · 2022Article
- The Finnish genetic heritage in 2022 - from diagnosis to translational research.Disease models & mechanisms · 2022Review
- Assembly of the Multi-Subunit CytochromeInternational journal of molecular sciences · 2022Review
- Mitochondrial Ataxias: Molecular Classification and Clinical Heterogeneity.Neurology international · 2022Review
- Clinical and diagnostic characteristics of complex III mitopathy due to novel BCS1L gene mutation in a Saudi patient.BMC medical genomics · 2022Article
27 more citing papers are in PubMed but not listed here.
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13 authors at 8 institutions in 6 countries.
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No grant is acknowledged in the PubMed record.
Abstract
GRACILE (growth retardation, aminoaciduria, cholestasis, iron overload, lactacidosis, and early death) syndrome is a recessively inherited lethal disease characterized by fetal growth retardation, lactic acidosis, aminoaciduria, cholestasis, and abnormalities in iron metabolism. We previously localized the causative gene to a 1.5-cM region on chromosome 2q33-37. In the present study, we report the molecular defect causing this metabolic disorder, by identifying a homozygous missense mutation that results in an S78G amino acid change in the BCS1L gene in Finnish patients with GRACILE syndrome, as well as five different mutations in three British infants. BCS1L, a mitochondrial inner-membrane protein, is a chaperone necessary for the assembly of mitochondrial respiratory chain complex III. Pulse-chase experiments performed in COS-1 cells indicated that the S78G amino acid change results in instability of the polypeptide, and yeast complementation studies revealed a functional defect in the mutated BCS1L protein. Four different mutations in the BCS1L gene have been reported elsewhere, in Turkish patients with a distinctly different phenotype. Interestingly, the British and Turkish patients had complex III deficiency, whereas in the Finnish patients with GRACILE syndrome complex III activity was within the normal range, implying that BCS1L has another cellular function that is uncharacterized but essential and is putatively involved in iron metabolism.
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