Fetal and obstetrics manifestations of mitochondrial diseases.

During embryonic and neonatal development, mitochondria have essential effects on metabolic and energetic regulation, shaping cell fate decisions and leading to significant short- and long-term effects on embryonic and offspring health. Therefore, perturbation on mitochondrial function can have a pathological effect on pregnancy. Several shreds of evidence collected in preclinical models revealed that severe mitochondrial dysfunction is incompatible with life or leads to critical developmental defects, highlighting the importance of correct mitochondrial function during embryo-fetal development.

Classification of the Conjoined Latissimus Dorsi-Groin Flap and Indications for the Four Types of the Flap.

The conjoined latissimus dorsi-groin flap is a versatile flap that not only can serve as an osteocutaneous flap to provide large soft tissue and bone for reconstruction of extensive defects but also can offer functioning muscle transfer and lymph node transfer for prevention of lymphedema after wide excision of tumors or major trauma. Over the past 24 years, the authors have classified the conjoined latissimus dorsi-groin flap into four categories. They propose precautions for application of the conjoined flaps.

PPAR-gamma agonist pioglitazone recovers mitochondrial quality control in fibroblasts from -deficient patients.

Biallelic variants in are associated with a slowly progressive syndrome characterized by intellectual disability, spinocerebellar ataxia, cognitive decline and psychosis. The pitrilysin metallopeptidase 1 (PITRM1) is a mitochondrial matrix enzyme, which digests diverse oligopeptides, including the mitochondrial targeting sequences (MTS) that are cleaved from proteins imported across the inner mitochondrial membrane by the mitochondrial processing peptidase (MPP). Mitochondrial peptidases also play a role in the maturation of Frataxin, the protein affected in Friedreich's ataxia.

Gene Therapy for Mitochondrial Diseases: Current Status and Future Perspective.

Mitochondrial diseases (MDs) are a group of severe genetic disorders caused by mutations in the nuclear or mitochondrial genome encoding proteins involved in the oxidative phosphorylation (OXPHOS) system. MDs have a wide range of symptoms, ranging from organ-specific to multisystemic dysfunctions, with different clinical outcomes. The lack of natural history information, the limits of currently available preclinical models, and the wide range of phenotypic presentations seen in MD patients have all hampered the development of effective therapies.