Inwardly rectifying K+ (Kir) channels allow K+ to move more easily into rather than out of the cell. They have diverse physiological functions depending on their type and their location. There are ...

Inwardly Rectifying Potassium Channels: Their Structure, Function, and Physiological Roles

Ruthenium-Catalyzed Reactions for Organic Synthesis.

Long QT and short QT syndromes (LQTS and SQTS) are cardiac repolarization abnormalities that are characterized by length perturbations of the QT interval as measured on electrocardiogram (ECG). Prolonged QT interval and a propensity for ventricular tachycardia of the torsades de pointes (TdP) type are characteristic of LQTS, while SQTS is characterized by shortened QT interval with tall peaked T-waves and a propensity for atrial fibrillation. Both syndromes represent a high risk for syncope and sudden death. LQTS exists as a congenital genetic disease (cLQTS) with more than 700 mutations described in 12 genes (LQT1–12), but can also be acquired (aLQTS). The genetic forms of LQTS include Romano-Ward syndrome (RWS), which is characterized by isolated LQTS and an autosomal dominant pattern of inheritance, and syndromes with LQTS in association with other conditions. The latter includes Jervell and Lange-Nielsen syndrome (JLNS), Andersen syndrome (AS), and Timothy syndrome (TS). The genetics are further complicated by the occurrence of double and triple heterozygotes in LQTS and a considerable number of nonpathogenic rare polymorphisms in the involved genes. SQTS is a very rare condition, caused by mutations in five genes (SQTS1–5). The present mutation update is a comprehensive description of all known LQTS- and SQTS-associated mutations. Hum Mutat 30:1486–1511, 2009. © 2009 Wiley-Liss, Inc.

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.21106

The genetic basis of long QT and short QT syndromes: a mutation update.

Asymmetric transfer hydrogenation has become a practically useful tool in reduction chemistry in the last decade or so. This was largely triggered by the seminal work of Noyori and co-workers in the mid-1990s and is driven by its complementing chemistry to hydrogenation employing H2. This Focus Review attempts to present a “holistic” overview on the advances in the area, focusing on the achievements recorded around the last three years. These include more-efficient and “greener” metal catalysts, catalysts that enable hydrogenation as well as transfer hydrogenation, biomimetic and organocatalysts, and their applications in the reduction of CO, CN, and CC bonds. Also highlighted are efforts in the development of environmentally benign and reusable catalytic systems.

Broader, Greener, and More Efficient: Recent Advances in Asymmetric Transfer Hydrogenation

Cristae, the organized invaginations of the mitochondrial inner membrane, respond structurally to the energetic demands of the cell. The mechanism by which these dynamic changes are regulated and the consequences thereof are largely unknown. Optic atrophy 1 (OPA1) is the mitochondrial GTPase responsible for inner membrane fusion and maintenance of cristae structure. Here, we report that OPA1 responds dynamically to changes in energetic conditions to regulate cristae structure. This cristae regulation is independent of OPA1's role in mitochondrial fusion, since an OPA1 mutant that can still oligomerize but has no fusion activity was able to maintain cristae structure. Importantly, OPA1 was required for resistance to starvation-induced cell death, for mitochondrial respiration, for growth in galactose media and for maintenance of ATP synthase assembly, independently of its fusion activity. We identified mitochondrial solute carriers (SLC25A) as OPA1 interactors and show that their pharmacological and genetic blockade inhibited OPA1 oligomerization and function. Thus, we propose a novel way in which OPA1 senses energy substrate availability, which modulates its function in the regulation of mitochondrial architecture in a SLC25A protein-dependent manner.

/pdf/opa1-dependent-cristae-modulation-is-essential-for-cellular-39xw1r0yee.pdf

OPA1-dependent cristae modulation is essential for cellular adaptation to metabolic demand.

Objective: Charcot-Marie-Tooth (CMT) disease is the most common inherited neuromuscular disorder, affecting 1 in 2,500 individuals. Mitochondrial DNA (mtDNA) mutations are not generally considered within the differential diagnosis of patients with uncomplicated inherited neuropathy, despite the essential requirement of ATP for axonal function. We identified the mtDNA mutation m.9185T>C in MT-ATP6 , encoding the ATP6 subunit of the mitochondrial ATP synthase (OXPHOS complex V), at homoplasmic levels in a family with mitochondrial disease in whom a severe motor axonal neuropathy was a striking feature. This led us to hypothesize that mutations in the 2 mtDNA complex V subunit encoding genes, MT-ATP6 and MT-ATP8 , might be an unrecognized cause of isolated axonal CMT and distal hereditary motor neuropathy (dHMN). Methods: A total of 442 probands with CMT type 2 (CMT2) (270) and dHMN (172) were screened for MT-ATP6/8 mutations after exclusion of mutations in known CMT2/dHMN genes. Mutation load was quantified using restriction endonuclease analysis. Blue-native gel electrophoresis (BN-PAGE) was performed to analyze the effects of m.9185T>C on complex V structure and function. Results: Three further probands with CMT2 harbored the m.9185T>C mutation. Some relatives had been classified as having dHMN. Patients could be separated into 4 groups according to their mutant m.9185T>C levels. BN-PAGE demonstrated both impaired assembly and reduced activity of the complex V holoenzyme. Conclusions: We have shown that m.9185T>C in MT-ATP6 causes CMT2 in 1.1% of genetically undefined cases. This has important implications for diagnosis and genetic counseling. Recognition that mutations in MT-ATP6 cause CMT2 enhances current understanding of the pathogenic basis of axonal neuropathy.

/pdf/genetic-dysfunction-of-mt-atp6-causes-axonal-charcot-marie-2d9zu1klpx.pdf

Genetic dysfunction of MT-ATP6 causes axonal Charcot-Marie-Tooth disease

Hydrogen transfer from the formic acid/triethylamme (5:2) azeotrope to α,β-unsaturated carboxylic acids is effectively catalyzed by ruthenium complexes of general formula [Ru(acac-F 6 )(η 3 - C 3 H 5 )(diphosphine)]. If a chiral diphosphine is employed, the saturated acids are obtained in up to 93% ee, the most active and selective catalyst being formed with BINAP.

Enantioselective catalytic transfer hydrogenation of α,β-unsaturated carboxylic acids with formates catalyzed by novel ruthenium phosphine complexes☆

Objective: To evaluate clinical, genetic, and electrophysiologic features of patients with Andersen-Tawil syndrome (ATS) in the United Kingdom. Methods: Clinical and neurophysiologic evaluation was conducted of 11 families suspected to have ATS. Molecular genetic analysis of each proband was performed by direct DNA sequencing of the entire coding region of KCNJ2 . Control samples were screened by direct DNA sequencing. The electrophysiologic consequences of several new mutations were studied in an oocyte expression system. Results: All 11 ATS families harbored pathogenic mutations in KCNJ2 with six mutations not previously reported. Some unusual clinical features including renal tubular defect, CNS involvement, and dental and phonation abnormalities were observed. Five mutations (T75M, D78G, R82Q, L217P, and G300D) were expressed, all of which resulted in nonfunctional channels when expressed alone, and co-expression with wild-type (WT) KCNJ2 demonstrated a dominant negative effect. Conclusion: Six new disease-causing mutations in KCNJ2 were identified, one of which was in a PIP 2 binding site. Molecular expression studies indicated that five of the mutations exerted a dominant negative effect on the wild-type allele. KCNJ2 mutations are an important cause of ATS in the UK.

/pdf/andersen-tawil-syndrome-new-potassium-channel-mutations-and-1p8vg8vbyp.pdf

Andersen-Tawil syndrome: new potassium channel mutations and possible phenotypic variation.

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Genetic dysfunction of MT-ATP6 causes axonal Charcot-Marie-Tooth disease

Enantioselective catalytic transfer hydrogenation of α,β-unsaturated carboxylic acids with formates catalyzed by novel ruthenium phosphine complexes☆

Andersen-Tawil syndrome: new potassium channel mutations and possible phenotypic variation.