AIFM1 beyond cell death: An overview of this OXPHOS-inducing factor in mitochondrial diseases

Wischhof, Lena; Scifo, Enzo; Ehninger, Dan; Bano, Daniele

doi:10.1016/j.ebiom.2022.104231

Cited by 18 publications

(13 citation statements)

References 133 publications

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“…Generally, the higher density of TOMM20 clusters indicates the greater activity of mitochondria. , Whereas, AIFM1 is a mitochondrial oxidoreductase released from the mitochondria and translocated to the nucleus upon cell injury, where it binds endonucleases that promote chromatin condensation and DNA fragmentation. In addition, the pro-death contribution of AIFM1 has been implicated in a range of biological processes associated with the mitochondrial OXPHOS biogenesis and maintenance . All of these findings suggested that AX improved the mitochondrial function by reducing oxidative stress and protecting mitochondrial redox balance.…”

Section: Discussionmentioning

confidence: 97%

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Astaxanthin Protects against Alcoholic Liver Injury via Regulating Mitochondrial Redox Balance and Calcium Homeostasis

Wang,

Zheng,

et al. 2023

J. Agric. Food Chem.

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Section: Discussionmentioning

confidence: 97%

“…In addition, the pro-death contribution of AIFM1 has been implicated in a range of biological processes associated with the mitochondrial OXPHOS biogenesis and maintenance. 67 All of these findings suggested that AX improved the mitochondrial function by reducing oxidative stress and protecting mitochondrial redox balance.…”

Section: Discussionmentioning

confidence: 99%

Astaxanthin Protects against Alcoholic Liver Injury via Regulating Mitochondrial Redox Balance and Calcium Homeostasis

Wang,

Zheng,

et al. 2023

J. Agric. Food Chem.

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“…Non-apoptotic pro-survival activities of AIF are related to oxidative phosphorylation. Murine aif knockout causes a defect in oxidative phosphorylation [ 155 , 156 ].…”

Section: Aif Non-apoptotic Functionsmentioning

confidence: 99%

“…AIF has been proposed to have an antioxidant function, which is important for optimal oxidative phosphorylation, as well as for the maintenance of mitochondrial morphology and cell-cycle regulation [ 154 , 156 ]. An absence of AIF in murine cardiac tissue leads to the development of dilated cardiomyopathy and heart failure [ 157 ].…”

Section: Aif Non-apoptotic Functionsmentioning

confidence: 99%

“…Over expression of anti-apoptotic Bcl-2 members (e.g., Bcl-2, Bcl-XL, Mcl-1) is quite frequent in newly diagnosed cancer as well as after developing resistance to therapy [ 227 ]. Bcl2 and Bcl-xL are expressed at high levels in many types of cancer, such as colon, prostate, lymphoma, glioma, gastric adenomas, carcinomas, and breast cancer [ 155 , 156 ]. When Bcl-2 is overexpressed in cancer cells, it may inhibit the pro-apoptotic signals, allowing the cancer cell to survive under stress [ 228 ].…”

Section: Non-apoptotic Functions Of Other Cell Death Regulatory Proteinsmentioning

confidence: 99%

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Apoptotic proteins with non-apoptotic activity: expression and function in cancer

2023

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Expanding the spectrum of neonatal‐onset AIFM1‐associated disorders

Zambon,

Ghezzi,

Baldoli

et al. 2023

Ann Clin Transl Neurol

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ObjectivesPathogenic variants in AIFM1 have been associated with a wide spectrum of disorders, spanning from CMT4X to mitochondrial encephalopathy. Here we present a novel phenotype and review the existing literature on AIFM1‐related disorders.MethodsWe performed EEG recordings, brain MRI and MR Spectroscopy, metabolic screening, echocardiogram, clinical exome sequencing (CES) and family study. Effects of the variant were established on cultured fibroblasts from skin punch biopsy.ResultsThe patient presented with drug‐resistant, electro‐clinical, multifocal seizures 6 h after birth. Brain MRI revealed prominent brain swelling of both hemispheres and widespread signal alteration in large part of the cortex and of the thalami, with sparing of the basal nuclei. CES analysis revealed the likely pathogenic variant c.5T>C; p.(Phe2Ser) in the AIFM1 gene. The affected amino acid residue is located in the mitochondrial targeting sequence. Functional studies on cultured fibroblast showed a clear reduction in AIFM1 protein amount and defective activities of respiratory chain complexes I, III and IV. No evidence of protein mislocalization or accumulation of precursor protein was observed. Riboflavin, Coenzyme Q10 and thiamine supplementation was therefore given. At 6 months of age, the patient exhibited microcephaly but did not experience any further deterioration. He is still fed orally and there is no evidence of muscle weakness or atrophy.InterpretationThis is the first AIFM1 case associated with neonatal seizures and diffuse white matter involvement with relative sparing of basal ganglia, in the absence of clinical signs suggestive of myopathy or motor neuron disease.

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AIFM1 beyond cell death: An overview of this OXPHOS-inducing factor in mitochondrial diseases

Cited by 18 publications

References 133 publications

Astaxanthin Protects against Alcoholic Liver Injury via Regulating Mitochondrial Redox Balance and Calcium Homeostasis

Astaxanthin Protects against Alcoholic Liver Injury via Regulating Mitochondrial Redox Balance and Calcium Homeostasis

Apoptotic proteins with non-apoptotic activity: expression and function in cancer

Expanding the spectrum of neonatal‐onset AIFM1‐associated disorders

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