TMEM63C mutations cause mitochondrial morphology defects and underlie hereditary spastic paraplegia.

The hereditary spastic paraplegias (HSP) are among the most genetically diverse of all Mendelian disorders. They comprise a large group of neurodegenerative diseases that may be divided into 'pure HSP' in forms of the disease primarily entailing progressive lower-limb weakness and spasticity, and 'complex HSP' when these features are accompanied by other neurological (or non-neurological) clinical signs. Here, we identified biallelic variants in the transmembrane protein 63C (TMEM63C) gene, encoding a predicted osmosensitive calcium-permeable cation channel, in individuals with hereditary spastic paraplegias associated with mild intellectual disability in some, but not all cases. Biochemical and microscopy analyses revealed that TMEM63C is an endoplasmic reticulum-localized protein, which is particularly enriched at mitochondria-endoplasmic reticulum contact sites. Functional in cellula studies indicate a role for TMEM63C in regulating both endoplasmic reticulum and mitochondrial morphologies. Together, these findings identify autosomal recessive TMEM63C variants as a cause of pure and complex HSP and add to the growing evidence of a fundamental pathomolecular role of perturbed mitochondrial-endoplasmic reticulum dynamics in motor neurone degenerative diseases

Advances in Corrosion-Resistant Thermal Spray Coatings for Renewable Energy Power Plants. Part I : Effect of Composition and Microstructure

Power generation from renewable resources has attracted increasing attention in recent years owing to the global implementation of clean energy policies. However, such power plants suffer from severe high-temperature corrosion of critical components such as water walls and superheater tubes. The corrosion is mainly triggered by aggressive gases like HCl, H2O, etc., often in combination with alkali and metal chlorides that are produced during fuel combustion. Employment of a dense defect-free adherent coating through thermal spray techniques is a promising approach to improving the performances of components as well as their lifetimes and, thus, significantly increasing the thermal/electrical efficiency of power plants. Notwithstanding the already widespread deployment of thermal spray coatings, a few intrinsic limitations, including the presence of pores and relatively weak intersplat bonding that lead to increased corrosion susceptibility, have restricted the benefits that can be derived from these coatings. Nonetheless, the field of thermal spraying has been continuously evolving, and concomitant advances have led to progressive improvements in coating quality; hence, a periodic critical assessment of our understanding of the efficacy of coatings in mitigating corrosion damage can be highly educative. The present paper seeks to comprehensively document the current state of the art, elaborating on the recent progress in thermal spray coatings for high-temperature corrosion applications, including the alloying effects, and the role of microstructural characteristics for understanding the behavior of corrosion-resistant coatings. In particular, this review comprises a substantive discussion on high-temperature corrosion mechanisms, novel coating compositions, and a succinct comparison of the corrosion-resistant coatings produced by diverse thermal spray techniques