RESUMEN
In eukaryotic cells, communication and dynamic interactions among different organelles are important for maintaining cellular homeostasis. The endoplasmic reticulum (ER) mitochondria encounter structure (ERMES) complex establishes membrane contact sites between ER and mitochondria and is essential for phospholipid transport, protein import, and mitochondrial dynamics and inheritance. In this work, in silico analyses were used to probe the intramolecular interactions in ERMES proteins and the interactions that support the ERMES complex. Based on mutual information (MI), sites of intramolecular coevolution are predicted in the core proteins Mmm1, Mdm10, Mdm12, Mdm34, the peroxisomal protein Pex11, and cytoplasmic Lam6; these sites are linked to structural features of the proteins. Intermolecular coevolution is predicted among the synaptotagmin-like mitochondrial lipid-binding protein (SMP) domains of Mmm1, Mdm12, and Mdm34. Segments of Pex11 and Lam6 also share MI with the SMP domains of Mmm1 and Mdm12 and with the N terminus of Mdm34, implicating Mdm34 as part of a hub for interactions between ERMES and other complexes. In contrast, evidence of limited intermolecular coevolution involving the outer membrane protein Mdm10 was detected only with Mmm1 and Pex11. The results support models for the organization of these interacting proteins and suggest roles for Pex11 and Lam6 in regulating complex formation.
Asunto(s)
Simulación por Computador , Evolución Molecular , Proteínas de Saccharomyces cerevisiae/genética , Saccharomyces cerevisiae/genética , Antiportadores/genética , Proteínas de la Membrana/genética , Peroxinas/genética , Saccharomyces cerevisiae/metabolismo , Proteínas de Saccharomyces cerevisiae/metabolismoRESUMEN
BACKGROUND: Basal cell carcinoma (BCC) is the most common nonmelanoma skin cancer. There is a clear association between BCC development and ultraviolet (UV) radiation. Erythropoietic protoporphyria (EPP) is an inherited porphyria disorder that is a result of protoporphyrin accumulation, typically manifesting with phototoxicity. CASE SUMMARY: We report a case of a 24 year-old man with both EPP and BCC diagnoses. At the age of 4 years, the patient was diagnosed with EPP. The patient presented with a BCC on his nose at age 24 years, despite sun avoidance as the primary treatment for his EPP diagnosis. CONCLUSION: Consider the diagnosis of BCC in a patient with EPP, despite sun avoidance.
Asunto(s)
Carcinoma Basocelular , Protoporfiria Eritropoyética , Neoplasias Cutáneas , Adulto , Humanos , Masculino , Nariz/patología , Adulto JovenRESUMEN
Attention-deficit/hyperactivity disorder (ADHD) is a neurodevelopmental disorder characterized by inattention, hyperactivity and impulsivity. A dearth of studies have investigated psychosexuality in this population, often with few (predominantly male) participants. We recruited individuals with and without ADHD via an anonymous online survey distributed electronically by ADHD support organizations and social media. We investigated sexual history; interests and practices; and relationships. Of 1392 respondents, we classified an 'ADHD' group (n = 541; 30.5% male) and compared them to individuals of similar ages without ADHD, ('Other' group; n = 851; 37.6% male). The ADHD group (both males and females) had a significantly higher preference for same-sex or either-sex partners; and higher rates of electronic sexual exchanges, masturbation, and sexually transmitted diseases. They were more adventurous in sexual interests and practices and substantially less satisfied with their partners, both sexually and generally. Within the ADHD group, significant sex differences emerged: females had younger onset of sexual activities, used contraception less frequently, had more sexual partners and practiced more infidelity. Sexual interests differed between the sexes, but females more commonly acted on them, whereas males did not. Findings suggest both sexes engage in risky sexual behaviors, perhaps driven by impulsivity, but risk is substantially greater for females with ADHD.