Sedaghatian spondylometaphyseal dysplasia in two siblings

Peshimam, Niha; Farah, H; Caswell, Richard; Ellard, Sian; Jan, Wajanat; Calder, Alistair; Cobben, Jan Maarten; Kariholu, Ujwal; Leitch, Harry G.

doi:10.1016/j.ejmg.2022.104541

Cited by 1 publication

(1 citation statement)

References 13 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Biallelic pathogenic GPX4 variants cause the rare and fatal disorder Sedaghatian type of spondylometaphyseal dysplasia (SSMD, [110]), with only 24 cases described to date. SSMD is a severe metaphyseal chondrodysplasia with, e.g., delayed epiphyseal ossification, mild limb shortening, platyspondyly, pulmonary hemorrhage, and brain anomalies resulting in death due to respiratory failure or cardiac abnormalities in the perinatal period [111]. Disruption of GPX4 causes buildup of lipid peroxidation and ferroptosis, which is an iron-dependent, non-apoptotic form of cell death [112,113].…”

Section: Glutathione Peroxidasesmentioning

confidence: 99%

Monogenic Disorders of ROS Production and the Primary Anti-Oxidative Defense

Grüning,

Ralser

2024

Biomolecules

View full text Add to dashboard Cite

Oxidative stress, characterized by an imbalance between the production of reactive oxygen species (ROS) and the cellular anti-oxidant defense mechanisms, plays a critical role in the pathogenesis of various human diseases. Redox metabolism, comprising a network of enzymes and genes, serves as a crucial regulator of ROS levels and maintains cellular homeostasis. This review provides an overview of the most important human genes encoding for proteins involved in ROS generation, ROS detoxification, and production of reduced nicotinamide adenine dinucleotide phosphate (NADPH), and the genetic disorders that lead to dysregulation of these vital processes. Insights gained from studies on inherited monogenic metabolic diseases provide valuable basic understanding of redox metabolism and signaling, and they also help to unravel the underlying pathomechanisms that contribute to prevalent chronic disorders like cardiovascular disease, neurodegeneration, and cancer.

show abstract