Primary Coenzyme Q10 Deficiency

open4siCLINICAL CHARACTERISTICS: Primary coenzyme Q10 (CoQ10) deficiency is usually associated with multisystem involvement, including neurologic manifestations such as fatal neonatal encephalopathy with hypotonia; a late-onset slowly progressive multiple-system atrophy-like phenotype (neurodegeneration with autonomic failure and various combinations of parkinsonism and cerebellar ataxia, and pyramidal dysfunction); and dystonia, spasticity, seizures, and intellectual disability. Steroid-resistant nephrotic syndrome (SRNS), the hallmark renal manifestation, is often the initial manifestation either as isolated renal involvement that progresses to end-stage renal disease (ESRD), or associated with encephalopathy (seizures, stroke-like episodes, severe neurologic impairment) resulting in early death. Hypertrophic cardiomyopathy (HCM), retinopathy or optic atrophy, and sensorineural hearing loss can also be seen. DIAGNOSIS/TESTING: The diagnosis of primary CoQ10 deficiency in a proband is established by identification of biallelic pathogenic variants in one of the nine genes encoding proteins directly involved in the synthesis of coenzyme Q10 or by detection of reduced levels of CoQ10 (ubiquinone) in skeletal muscle or reduced activities of complex I+III and II+III of the mitochondrial respiratory chain on frozen muscle homogenates. MANAGEMENT: Treatment of manifestations: In individuals with primary CoQ10 deficiency early treatment with high-dose oral CoQ10 supplementation (ranging from 5 to 50 mg/kg/day) can limit disease progression and reverse some manifestations; however, established severe neurologic and/or renal damage cannot be reversed. ACE inhibitors may be used in combination with CoQ10 supplementation in persons with proteinuria; renal transplantation is an option for those with ESRD. Treatment of hypertrophic cardiomyopathy, retinopathy, and sensorineural hearing loss is per usual practice. Prevention of primary manifestations: Supplementation with high-dose oral CoQ10 can prevent progression of the renal disease and onset of neurologic manifestations. Surveillance: Periodic neurologic evaluation, urine analysis (for proteinuria) and renal function tests, ophthalmologic evaluation, and audiometry. Evaluation of relatives at risk: Presymptomatic diagnosis for the purpose of early treatment with CoQ10 supplementation is warranted for relatives at risk. GENETIC COUNSELING: Primary coenzyme Q10 deficiency is inherited in an autosomal recessive manner. At conception, each sib of an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. Carrier testing for at-risk relatives, prenatal testing for pregnancies at increased risk, and preimplantation genetic diagnosis are possible if the pathogenic variants in a family are known.openSalviati, L; Trevisson, E; Doimo, M; Navas, PSalviati, Leonardo; Trevisson, Eva; Doimo, Mara; Navas, P

Specific star formation rates to redshift 5 from the FORS Deep Field and the GOODS-S Field

We explore the build-up of stellar mass in galaxies over a wide redshift range 0.4 < z < 5.0 by studying the evolution of the specific star formation rate (SSFR), defined as the star formation rate per unit stellar mass, as a function of stellar mass and age. Our work is based on a combined sample of ~ 9000 galaxies from the FORS Deep Field and the GOODS-S field, providing high statistical accuracy and relative insensitivity against cosmic variance. As at lower redshifts, we find that lower-mass galaxies show higher SSFRs than higher mass galaxies, although highly obscured galaxies remain undetected in our sample. Furthermore, the highest mass galaxies contain the oldest stellar populations at all redshifts, in principle agreement with the existence of evolved, massive galaxies at 1 < z < 3. It is remarkable, however, that this trend continues to very high redshifts of z ~ 4. We also show that with increasing redshift the SSFR for massive galaxies increases by a factor of ~ 10, reaching the era of their formation at z ~ 2 and beyond. These findings can be interpreted as evidence for an early epoch of star formation in the most massive galaxies, and ongoing star-formation activity in lower mass galaxies.Comment: Accepted for publication in ApJL; 4 pages, 2 color figures, uses emulateapj.cl

Chocolate provides a unique sensory experience: uncovering the secret of the ‘chocolate craving’

We are constantly being told that chocolate is bad for our health– but is it bad for our mind? Mara P. Squicciarini and Johan Swinnen share an excerpt from their book, The Economics of Chocolate, which provides an economic analysis, as well as an interdisciplinary overview on all things chocolate. Here they explore the benefits of chocolate consumption and the impact chocolate cravings have on our moods

Microbial hydrocarbon degradation in Guaymas Basin—exploring the roles and potential interactions of fungi and sulfate-reducing bacteria

© The Author(s), 2022. This article is distributed under the terms of the Creative Commons Attribution License. The definitive version was published in Edgcomb, V., Teske, A., & Mara, P. Microbial hydrocarbon degradation in Guaymas Basin—exploring the roles and potential interactions of fungi and sulfate-reducing bacteria. Frontiers in Microbiology, 13, (2022): 831828, https://doi.org/10.3389/fmicb.2022.831828.Hydrocarbons are degraded by specialized types of bacteria, archaea, and fungi. Their occurrence in marine hydrocarbon seeps and sediments prompted a study of their role and their potential interactions, using the hydrocarbon-rich hydrothermal sediments of Guaymas Basin in the Gulf of California as a model system. This sedimented vent site is characterized by localized hydrothermal circulation that introduces seawater sulfate into methane- and hydrocarbon-rich sediments, and thus selects for diverse hydrocarbon-degrading communities of which methane, alkane- and aromatics-oxidizing sulfate-reducing bacteria and archaea have been especially well-studied. Current molecular and cultivation surveys are detecting diverse fungi in Guaymas Basin hydrothermal sediments, and draw attention to possible fungal-bacterial interactions. In this Hypothesis and Theory article, we report on background, recent results and outcomes, and underlying hypotheses that guide current experiments on this topic in the Edgcomb and Teske labs in 2021, and that we will revisit during our ongoing investigations of bacterial, archaeal, and fungal communities in the deep sedimentary subsurface of Guaymas Basin.This project was supported by collaborative NSF Biological Oceanography grants OCE-1829903 and OCE-1829680 “Hydrothermal fungi in the Guaymas Basin Hydrocarbon Ecosystem” to VE and AT, and collaborative NSF Biological Oceanography grants OCE-2046799 and OCE-2048489 “IODP-enabled Insights into Fungi and Their Metabolic Interactions with Other Microorganisms in Deep Subsurface Hydrothermal Sediments” to VE and AT. PM was supported by OCE-2046799 and OCE-1829903. Sampling in Guaymas Basin was supported by collaborative NSF Biological Oceanography grant 1357238 “Collaborative Research: Microbial carbon cycling and its interaction with sulfur and nitrogen transformations in Guaymas Basin hydrothermal sediments” to AT