How to treat a "sweetheart" in mitochondrial cardiomyopathy.

Mitochondria are the powerhouses of the cell, and they are fuel flexible. They can generate power from nearly every abundant carbon source in the body, including carbohydrates, amino acids, and fatty acids. When mitochondria are sick, however, some fuels may be better than others – and the best may not come in “heart healthy” packaging.

Genotype-phenotype correlation in PRKN-associated Parkinson's disease.

Bi-allelic pathogenic variants in PRKN are the most common cause of autosomal recessive Parkinson's disease (PD). 647 patients with PRKN-PD were included in this international study. The pathogenic variants present were characterised and investigated for their effect on phenotype.

DELE1 promotes translation-associated homeostasis, growth, and survival in mitochondrial myopathy.

Mitochondrial dysfunction causes devastating disorders, including mitochondrial myopathy. Here, we identified that diverse mitochondrial myopathy models elicit a protective mitochondrial integrated stress response (mt-ISR), mediated by OMA1-DELE1 signaling. The response was similar following disruptions in mtDNA maintenance, from knockout of , and mitochondrial protein unfolding, from disease-causing mutations in CHCHD10 (G58R and S59L).

Connectivity correlates to predict essential tremor deep brain stimulation outcome: Evidence for a common treatment pathway.

Background And Purpose: Deep brain stimulation (DBS) is the most common surgical treatment for essential tremor (ET), yet there is variation in outcome and stimulation targets. This study seeks to consolidate proposed stimulation "sweet spots," as well as assess the value of structural connectivity in predicting treatment outcomes.

Materials And Methods: Ninety-seven ET individuals with unilateral thalamic DBS were retrospectively included.

Squamous cell carcinoma of the base of the tongue mimicking bulbar-onset amyotrophic lateral sclerosis.

One-third of patients with amyotrophic lateral sclerosis (ALS) present with bulbar symptoms, exhibiting progressive dysphagia and dysarthria. In comparison, squamous cell carcinoma (SCC) of the tongue can cause tongue paralysis secondary to hypoglossal nerve infiltration. In rare cases, SCC can mimic motor neuron disease.

Late onset CMT2A in a Family with an MFN2 Variant: c.2222T>G (p.Leu741Trp).

Mutations in MFN2 cause a range of Charcot-Marie-Tooth disease (CMT) phenotypes with different inheritance patterns and underlying pathogenic mechanisms. Recently, a family with a dominantly inherited CMT harboring c.2222T>G (p.

Presence of both anti-contactin 1 and anti-neurofascin 140 antibodies in a case of chronic inflammatory demyelinating polyneuropathy.

Chronic inflammatory demyelinating polyneuropathy (CIDP) is an acquired disorder of peripheral nerves and nerve roots. Its cause is unknown, but recently antibodies to nodal and paranodal proteins have been discovered in a small subset of CIDP patients. These contactin and neurofascin-related immune-mediated neuropathies are thought to be variants of CIDP and often respond suboptimally to standard therapy.

Egr2-dependent microRNA-138 is dispensable for peripheral nerve myelination.

Recent studies have elucidated the crucial role for microRNAs in peripheral nerve myelination by ablating components of the microRNA synthesis machinery. Few studies have focused on the role of individual microRNAs. To fill this gap, we focused this study on miR-138, which was shown to be drastically reduced in Dicer1 and Dgcr8 knockout mice with hypomyelinating phenotypes and to potentially target the negative regulators of Schwann cell differentiation.

Role of WW Domain-containing Oxidoreductase WWOX in Driving T Cell Acute Lymphoblastic Leukemia Maturation.

Whether tumor suppressor WWOX (WW domain-containing oxidoreductase) stimulates immune cell maturation is largely unknown. Here, we determined that Tyr-33-phosphorylated WWOX physically binds non-phosphorylated ERK and IκBα in immature acute lymphoblastic leukemia MOLT-4 T cells and in the naïve mouse spleen. The IκBα·ERK·WWOX complex was shown to localize, in part, in the mitochondria.

Microprocessor complex subunit DiGeorge syndrome critical region gene 8 (Dgcr8) is required for schwann cell myelination and myelin maintenance.

We investigated the role of a key component of the Microprocessor complex, DGCR8, in the regulation of myelin formation and maintenance. We found that conditionally ablating Dgcr8 in Schwann cells (SCs) during development results in an arrest of SC differentiation. Dgcr8 conditional knock-out (cKO) SCs fail to form 1:1 relationships with axons or, having achieved this, fail to form myelin sheaths.

An Lmx1b-miR135a2 regulatory circuit modulates Wnt1/Wnt signaling and determines the size of the midbrain dopaminergic progenitor pool.

MicroRNAs regulate gene expression in diverse physiological scenarios. Their role in the control of morphogen related signaling pathways has been less studied, particularly in the context of embryonic Central Nervous System (CNS) development. Here, we uncover a role for microRNAs in limiting the spatiotemporal range of morphogen expression and function.

Mothers' experience supporting life adjustment in children with T1DM.

The purpose of this study was to use a phenomenological approach to explore the essential structure of mothers' life experience when helping their first- to third-grade children with Type 1 diabetes mellitus (T1DM) make life adjustments at school. Twelve mothers whose children had been diagnosed with T1DM participated in this study at a teaching hospital in Taipei, Taiwan. Study results revealed six themes and identified the presence of various dynamic relationships between T1DM symptoms, the children's development, and collaborative self-care.