Functional characterisation of peroxisomal β‐oxidation disorders in fibroblasts using lipidomics

Herzog, Katharina; Pras‐Raves, Mia L.; Ferdinandusse, Sacha; Vervaart, Martin A. T.; Luyf, Angela C. M.; Kampen, Antoine H. C. van; Wanders, Ronald J. A.; Waterham, Hans R.; Vaz, Frédéric M.

doi:10.1007/s10545-017-0076-9

Cited by 49 publications

(49 citation statements)

References 27 publications

(40 reference statements)

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“…myelin sheath lipids), which in mammalian cells is initiated in peroxisomes and completed in the ER. Loss of ACBD5 function resulted in a reduction in ether-phospholipids [ 157 ], supporting the notion that the peroxisome-ER contact may facilitate lipid/metabolite transfer for ether-phospholipid synthesis ( Table 1 ; Fig. 2 ).…”

Section: Peroxisome-organelle Interactions and Their Physiological Resupporting

confidence: 61%

Maintaining social contacts: The physiological relevance of organelle interactions

Silva

DiGiovanni

Kumar

et al. 2020

Biochimica et Biophysica Acta (BBA) - Molecular Cell Research

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Membrane-bound organelles in eukaryotic cells form an interactive network to coordinate and facilitate cellular functions. The formation of close contacts, termed “membrane contact sites” (MCSs), represents an intriguing strategy for organelle interaction and coordinated interplay. Emerging research is rapidly revealing new details of MCSs. They represent ubiquitous and diverse structures, which are important for many aspects of cell physiology and homeostasis. Here, we provide a comprehensive overview of the physiological relevance of organelle contacts. We focus on mitochondria, peroxisomes, the Golgi complex and the plasma membrane, and discuss the most recent findings on their interactions with other subcellular organelles and their multiple functions, including membrane contacts with the ER, lipid droplets and the endosomal/lysosomal compartment.

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Section: Peroxisome-organelle Interactions and Their Physiological Resupporting

confidence: 61%

Maintaining social contacts: The physiological relevance of organelle interactions

Silva

DiGiovanni

Kumar

et al. 2020

Biochimica et Biophysica Acta (BBA) - Molecular Cell Research

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“…1 , 3 ). The ACBD5–VAPA/B contact plays a role in plasmalogen biosynthesis, which requires metabolic cooperation between peroxisomes and the ER (Hua et al 2017 ; Herzog et al 2017 ). Moreover, the peroxisome–ER contacts influence peroxisome motility providing a new role for a peroxisome–ER tether in the regulation of peroxisome movement and membrane dynamics in mammalian cells (Costello et al 2017 ; Hua et al 2017 ; Castro et al 2018a , b ) (Fig.…”

Section: Mysterious Machinery: New Proteins and Functions At The Peromentioning

confidence: 99%

The peroxisome: an update on mysteries 2.0

Islinger

Voelkl

Fahimi

et al. 2018

Histochem Cell Biol

225

206

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Peroxisomes are key metabolic organelles, which contribute to cellular lipid metabolism, e.g. the β-oxidation of fatty acids and the synthesis of myelin sheath lipids, as well as cellular redox balance. Peroxisomal dysfunction has been linked to severe metabolic disorders in man, but peroxisomes are now also recognized as protective organelles with a wider significance in human health and potential impact on a large number of globally important human diseases such as neurodegeneration, obesity, cancer, and age-related disorders. Therefore, the interest in peroxisomes and their physiological functions has significantly increased in recent years. In this review, we intend to highlight recent discoveries, advancements and trends in peroxisome research, and present an update as well as a continuation of two former review articles addressing the unsolved mysteries of this astonishing organelle. We summarize novel findings on the biological functions of peroxisomes, their biogenesis, formation, membrane dynamics and division, as well as on peroxisome–organelle contacts and cooperation. Furthermore, novel peroxisomal proteins and machineries at the peroxisomal membrane are discussed. Finally, we address recent findings on the role of peroxisomes in the brain, in neurological disorders, and in the development of cancer.

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“…The specificity of the lipids into play is further illustrated by the fact that for some ceramides (d43:3) the control group has higher abundances than ALD samples while for other ceramides (d46:4) the abundances are much lower. This specificity of individual sphingolipids in CALD could be of interest as the they have previously been demonstrated to be relevant in other peroxisomal disorders ( Herzog et al, 2018a , b ).…”

Section: Discussionmentioning

confidence: 87%

Multi-Omic Approach to Identify Phenotypic Modifiers Underlying Cerebral Demyelination in X-Linked Adrenoleukodystrophy

Richmond

Kloet

Vaz

et al. 2020

Front. Cell Dev. Biol.

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X-linked adrenoleukodystrophy (ALD) is a peroxisomal metabolic disorder with a highly complex clinical presentation. ALD is caused by mutations in the ABCD1 gene, and is characterized by the accumulation of very long-chain fatty acids in plasma and tissues. Disease-causing mutations are 'loss of function' mutations, with no prognostic value with respect to the clinical outcome of an individual. All male patients with ALD develop spinal cord disease and a peripheral neuropathy in adulthood, although age of onset is highly variable. However, the lifetime prevalence to develop progressive white matter lesions, termed cerebral ALD (CALD), is only about 60%. Early identification of transition to CALD is critical since it can be halted by allogeneic hematopoietic stem cell therapy only in an early stage. The primary goal of this study is to identify molecular markers which may be prognostic of cerebral demyelination from a simple blood sample, with the hope that blood-based assays can replace the current protocols for diagnosis. We collected six well-characterized brother pairs affected by ALD and discordant for the presence of CALD and performed multi-omic profiling of blood samples including genome, epigenome, transcriptome, metabolome/lipidome, and proteome profiling. In our analysis we identify discordant genomic alleles present across all families as well as differentially abundant molecular features across the omics technologies. The analysis was focused on univariate modeling to discriminate the two phenotypic groups, but was unable to identify statistically significant candidate molecular markers. Our study

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Functional characterisation of peroxisomal β‐oxidation disorders in fibroblasts using lipidomics

Cited by 49 publications

References 27 publications

Maintaining social contacts: The physiological relevance of organelle interactions

Maintaining social contacts: The physiological relevance of organelle interactions

The peroxisome: an update on mysteries 2.0

Multi-Omic Approach to Identify Phenotypic Modifiers Underlying Cerebral Demyelination in X-Linked Adrenoleukodystrophy

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