BACKGROUND Genome-wide association studies have shown that rs738491, rs2143571, and rs3761472 in the sorting and assembly machinery component 50 homolog (SAMM50) gene are significantly associated with susceptibility to nonalcoholic fatty liver disease (NAFLD). OBJECTIVES The present study evaluated the association between the three genetic variants in the SAMM50 gene and susceptibility to NAF...

To identify physiologically important human N-myristoylated proteins, 90 cDNA clones predicted to encode human N-myristoylated proteins were selected from a human cDNA resource (4,369 Kazusa ORFeome project human cDNA clones) by two bioinformatic N-myristoylation prediction systems, NMT-The MYR Predictor and Myristoylator. After database searches to exclude known human N-myristoylated proteins,...

background genome-wide association studies have shown that rs738491, rs2143571, and rs3761472 in the sorting and assembly machinery component 50 homolog (samm50) gene are significantly associated with susceptibility to nonalcoholic fatty liver disease (nafld). conclusions we first demonstrated that the rs738491 t allele, rs2143571 a allele, and rs3761472 g allele in the samm50 gene created susc...

BACKGROUND & AIMS The pathogenesis of non-alcoholic fatty liver disease (NAFLD) is affected by epigenetic factors as well as by genetic variation. METHODS We performed targeted-bisulfite sequencing to determine the levels of DNA methylation of 4 CpG islands (CpG99, CpG71, CpG26, and CpG101) in the regulatory regions of PNPLA3, SAMM50, PARVB variant 1, and PARVB variant 2, respectively. We com...

The number of people with neurodegenerative disease continues to increase every year. A new perspective is needed overcome this disease. In review, researchers collected information about dysfunctional energy in diseases driven by mitochondria. Mitochondrial dysregulation can cause damage the neuron system. amount and interaction α-synuclein SAMM50 GABARAPL1 mitochondria one factors causing As ...

Members of the Omp85/TpsB protein superfamily are ubiquitously distributed in Gram-negative bacteria, and function in protein translocation (e.g., FhaC) or the assembly of outer membrane proteins (e.g., BamA). Several recent findings are suggestive of a further level of variation in the superfamily, including the identification of the novel membrane protein assembly factor TamA and protein tran...

Mammals C. elegans 1 TM domain; C-term in IMS and N-term in the matrix. IBM & CJ; self-oligomerizes, binds MICOS/MINOS/MitOS components and Sam50, Tob38, Ugo1, Fzo1. Yeast are viable but exhibit altered mtDNA inheritance and decreased respiratory growth. Mammals and worms exhibit increased ROS production and apoptosis. Loss of CJ, altered cristae structure, accumulation of cristae stacks and cr...

The mitochondrial contact site and cristae junction (CJ) organizing system (MICOS) dynamically regulate mitochondrial membrane architecture. Through systematic proteomic analysis of human MICOS, we identified QIL1 (C19orf70) as a novel conserved MICOS subunit. QIL1 depletion disrupted CJ structure in cultured human cells and in Drosophila muscle and neuronal cells in vivo. In human cells, mitoc...

The MItochondrial Contact Site and Cristae Organizing System (MICOS) is required for the biogenesis and maintenance of mitochondrial cristae as well as the proper tethering of the mitochondrial inner and outer membranes. We recently demonstrated that the core components of MICOS, Mic10 and Mic60, are near-ubiquitous eukaryotic features inferred to have been present in the last eukaryote common ...