Single-cell multiomic analyses sheds light on mitochondrial mutational selection

Review Neurosciences

Mitochondrial signalling and homeostasis: from cell biology to neurological disease

Jack J. Collier et al.

Summary: Efforts to understand the role of mitochondria in neuronal energy metabolism have shed light on the contribution of mitochondrial dysfunction to neurodegeneration. New ideas about the mitochondrial basis of neurological disease have emerged, including the roles of mitochondria in immunometabolism, cell death, organelle dynamics, and neuroimmune interplay. Homeostatic mechanisms, including nanoscale proteostasis and lysosomal degradation, have become integrated within mitochondrial signaling pathways to support metabolic plasticity and stress responses in the nervous system. This review highlights how these distinct mitochondrial pathways converge to influence neurological health and contribute to disease pathology.

TRENDS IN NEUROSCIENCES (2023)

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Review Oncology

Metabolic programming and immune suppression in the tumor microenvironment

Emily N. Arner et al.

Summary: Increased glucose metabolism and uptake are characteristic of many tumors and used clinically to diagnose and monitor cancer progression. Cooperation and competition between different cell populations within the tumor microenvironment (TME) drive tumor proliferation, progression, metastasis, and immune evasion. Targeting metabolic heterogeneity within the TME may offer therapeutic opportunities to overcome immune suppression and enhance immunotherapies.

CANCER CELL (2023)

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Article Genetics & Heredity

Single-cell multi-omics of mitochondrial DNA disorders reveals dynamics of purifying selection across human immune cells

Caleb A. Lareau et al.

Summary: This study establishes a multi-omics approach to quantify deletions in mtDNA in single cells and reveals the dynamics of pathogenic mtDNA deletion heteroplasmy consistent with purifying selection and distinct metabolic vulnerabilities across T-cell states.

NATURE GENETICS (2023)

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Review Genetics & Heredity

Pearson syndrome: a multisystem mitochondrial disease with bone marrow failure

Ayami Yoshimi et al.

Summary: Pearson syndrome (PS) is a rare and deadly mitochondrial disorder characterized by anemia in infancy. Bone marrow cytology and detection of SLSMDs are key in diagnosing PS. Non-hematological symptoms are often absent at initial presentation, making PS an important differential diagnosis for isolated hypogenerative anemia in infants. While two-thirds of patients experience spontaneous resolution of anemia between the ages of 1 to 3, they may develop multisystem complications throughout the course of the disease. Currently, there is no curative therapy for PS, highlighting the need for the development of new treatment options.

ORPHANET JOURNAL OF RARE DISEASES (2022)

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Review Oncology

The genetics of mitochondrial disease: dissecting mitochondrial pathology using multi-omic pipelines

Charlotte L. Alston et al.

Summary: Mitochondria play essential roles in metabolism, with mitochondrial diseases clinically diverse and genetically heterogeneous. Genetic diagnosis is crucial for genetic counselling and reproductive options, with next-generation sequencing and multi-omics approaches revolutionizing mitochondrial diagnostics. Patient tissues and integrated multi-omics approach are pivotal for understanding molecular mechanisms in challenging cases.

JOURNAL OF PATHOLOGY (2021)

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Article Medicine, General & Internal