P450 Oxidoreductase Deficiency: Loss of Activity Caused by Protein Instability From a Novel L374H Mutation
Open accessAbstract
CONTEXT: P450 oxidoreductase (POR) is required for the activities of steroid-metabolizing cytochrome P450 enzymes in the endoplasmic reticulum. POR deficiency (PORD) is a form of congenital adrenal hyperplasia. Objective and Aim: Enzymatic and structural analysis of a novel L374H POR mutation from a patient with 46,XX disorder of sexual development. Design, Setting, Patient, and Intervention: The patient was a 46,XX girl with nonconsanguineous Turkish parents. She had virilized external genitalia at birth, a uterus and ovaries, and no sign of Antley-Bixler syndrome. The initial diagnosis was CYP21A2 deficiency with no mutations in CYP21A2, but POR mutations were found. Functional testing was done after producing recombinant POR proteins for analyzing enzymatic and structural properties. MAIN OUTCOME: Novel mutations were causing severe loss of POR activities for metabolism of steroids and small molecules. RESULTS: The L374H mutation reduced activities by 80% in cytochrome c, 97% in thiazolyl blue tetrazolium bromide, and 86% in ferricyanide reduction assays. The catalytic efficiency of the 17 α-hydroxylation of progesterone and the 17,20-lyase reaction of 17-OH pregnenolone was decreased by 87 and 90%, respectively; 21-hydroxylation of progesterone was decreased by 96%, and androstenedione aromatization was decreased by 90%. Analysis of the mutant structure by molecular dynamics simulations revealed structural instability. Flavin release and fast proteolysis assays showed that the L374H mutant is less stable than wild-type POR, confirming the bioinformatics prediction. CONCLUSIONS: This is the first report of a mutation causing PORD by affecting protein stability that causes severe reduction in POR activities. Detailed characterization of individual mutations in POR is required for understanding novel molecular mechanisms causing PORD.
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P228L variant is more sensitive to urea denaturation, and may exist in a different conformation and be less stable than WT POR.
“suggesting that the P228L variant of POR is more sensitive to urea denaturation, and may exist in a different conformation and be less stable than WT POR (Figure 5D) [12,15,31].”
From Loss of Protein Stability and Function Caused by P228L Variation in NADPH-Cytochrome P450 Reductase Linked to Lower Testosterone Levels (2022) · cites this paper as [15]
The section “L374H mutation affects the stability of POR protein” (page unavailable) reports flavin release at lower urea concentrations and greater instability than WT POR. Those findings concern L374H, not the claimed P228L variant; our copy provides no P228L result. (LLM, conf=0.85)
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- Authors
- Parween, S., Roucher-Boulez, F., Flück, C. E., Lienhardt-Roussie, A., Mallet, D., Morel, Y., & Pandey, A. V.
- Affiliations
- Lyon 1 Université (FR)
- Corresponding author
- Pandey, Amit V.
- Venue
- The Journal of Clinical Endocrinology & Metabolism
- Publisher
- The Endocrine Society
- Published
- 2016-12
- Volume
- 101
- Issue
- 12
- Pages
- 4789-4798
- ISSN
- 0021-972X (ISSN-L)
- 1945-7197
- OpenAlex
- W2515364050
- Semantic Scholar
- 73e7328ed9d90c99219114571f9d0d50809d9017
- Cited by
- 37
- References
- 36
- Citations by year
- 2026: 6 · 2025: 2 · 2024: 1 · 2023: 3 · 2022: 5 · 2021: 2 · 2020: 2 · 2019: 8 · 2018: 3 · 2017: 5
- FWCI
- 2.77
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- The Journal of Clinical Endocrinology & Metabolism (publishedVersion)
- PubMed (publishedVersion)
- RERO DOC (Universität Bern) (submittedVersion)
- BORIS (University Library Bern) (submittedVersion)
- Funders
- National Science Foundation (31003A-134926)
- University of Bern
- Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung (134926, 31003A)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Sexual Differentiation and Disorders
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Adrenal Hormones and Disorders
- Life Sciences › Pharmacology, Toxicology and Pharmaceutics › Pharmacology › Pharmacogenetics and Drug Metabolism
- Keywords
- P450 oxidoreductase deficiency, congenital adrenal hyperplasia, disorders of sex development, protein instability, 17α-hydroxylation, 21-hydroxylation, androstenedione aromatization, steroid metabolism, molecular dynamics simulation
- MeSH terms
- Cytochrome P-450 Enzyme System, Female, Humans, Infant, Mutation, 46, XX Disorders of Sex Development
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