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- W2001007989 abstract "Mitochondrial-dependent (intrinsic) programmed cell death (PCD) is an essential homoeostatic mechanism that selects bioenergetically proficient cells suitable for tissue/organ development. However, the link between mitochondrial dysfunction, intrinsic apoptosis and developmental anomalies has not been demonstrated to date. Now we provide the evidence that non-canonical mitochondrial dependent apoptosis explains the phenotype of microphthalmia with linear skin lesions (MLS), an X-linked developmental disorder caused by mutations in the holocytochrome c-type synthase (HCCS)gene [corrected]. By taking advantage of a medaka model that recapitulates the MLS phenotype we demonstrate that downregulation of hccs, an essential player of the mitochondrial respiratory chain (MRC), causes increased cell death via an apoptosome-independent caspase-9 activation in brain and eyes. We also show that the unconventional activation of caspase-9 occurs in the mitochondria and is triggered by MRC impairment and overproduction of reactive oxygen species (ROS). We thus propose that HCCS plays a key role in central nervous system (CNS) development by modulating a novel non-canonical start-up of cell death and provide the first experimental evidence for a mechanistic link between mitochondrial dysfunction, intrinsic apoptosis and developmental disorders." @default.
- W2001007989 created "2016-06-24" @default.
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- W2001007989 date "2013-01-22" @default.
- W2001007989 modified "2023-10-16" @default.
- W2001007989 title "The impairment of HCCS leads to MLS syndrome by activating a non‐canonical cell death pathway in the brain and eyes" @default.
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- W2001007989 doi "https://doi.org/10.1002/emmm.201201739" @default.
- W2001007989 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/4203360" @default.
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- W2001007989 hasPublicationYear "2013" @default.
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