Article
Clinical Neurology
Petya Bogdanova-Mihaylova, Hongying Chen, Helena Maria Plapp, Ciara Gorman, Michael D. Alexander, John C. McHugh, Sharon Moran, Anne Early, Lorraine Cassidy, Timothy Lynch, Sinead M. Murphy, Richard A. Walsh
Summary: Mutations in the SPG7 gene are increasingly recognized as a common cause of spastic ataxia. This study focused on a cohort of Irish patients with recessive SPG7-associated phenotype, identifying 32 symptomatic individuals from 25 families. Results showed a common genetic variant and observed retinal nerve fiber layer abnormalities in these patients.
JOURNAL OF NEUROLOGY
(2021)
Article
Genetics & Heredity
Christina Votsi, Antonis Ververis, Paschalis Nicolaou, Yiolanda-Panayiota Christou, Kyproula Christodoulou, Eleni Zamba-Papanicolaou
Summary: This study reports a large Cypriot family with spastic ataxia caused by a novel homozygous missense variant in the SPG7 gene. The patients exhibited typical features of spastic ataxia, but phenotypic variation was observed within the family. Functional studies revealed aberrant mitochondrial morphology, indicating the pathogenicity of the identified variant.
FRONTIERS IN GENETICS
(2022)
Article
Neurosciences
Gautam Wali, Yan Li, Erandhi Liyanage, Kishore R. Kumar, Margot L. Day, Carolyn M. Sue
Summary: SPG7 is a common form of autosomal recessive hereditary spastic paraplegia (HSP). This study generated a human neuronal model of HSP-SPG7 using induced pluripotent stem (iPS) cells. The results show that patient neurons have mitochondrial and neuronal defects, but treatment with a mitochondrial regulator can rescue these defects. This study establishes a direct link between mitochondrial and neuronal defects in HSP-SPG7 patient neurons and provides a strategy for testing mitochondrial targeting drugs.
FRONTIERS IN NEUROSCIENCE
(2023)
Article
Clinical Neurology
Geert Vander Stichele, Alexandra Durr, Grace Yoon, Rebecca Schuele, Craig Blackstone, Giovanni Esposito, Connor Buffel, Ines Oliveira, Christian Freitag, Stephane van Rooijen, Stephanie Hoffmann, Leen Thielemans, Belinda S. Cowling
Summary: This study reviewed the literature on the epidemiology of hereditary spastic paraplegias (HSPs) and developed an epidemiological model to estimate the prevalence of HSP at the global and regional level. The results showed that the global prevalence of HSP was 3.6 per 100,000, with variations in prevalence among different genetic subtypes. This study provides important data for understanding the burden of HSP and can inform public health policies and healthcare service planning.
Article
Biochemistry & Molecular Biology
Piero R. Bianco, Yue Lu
Summary: In Escherichia coli, DNA replication forks stall at least once per cell cycle, and the process of rescuing the stalled forks involves the sequential action of different proteins or enzymes depending on the nature of the impediment. Insight gained from single-molecule studies provides a comprehensive understanding of the roles of individual proteins and pathways in stalled DNA replication fork rescue.
NUCLEIC ACIDS RESEARCH
(2021)
Article
Genetics & Heredity
Arman A. Bashirova, Wojciech Kasprzak, Colm O'hUigin, Mary Carrington
Summary: The genes LILRB3 and LILRA6 encode homologous receptors with inhibitory and activating functions, respectively. These genes exhibit high levels of polymorphism at the amino acid level, and LILRA6 shows variation in copy number. By analyzing the genetic variation in 91 individuals, it was found that common alleles of LILRB3 and LILRA6 encode different amino acid sequences in homologous regions, potentially affecting their functions differently. Furthermore, the comparison of sequences in individuals with different copy numbers of LILRA6 suggests a mechanism of non-allelic homologous recombination between LILRB3 and LILRA6. These findings provide a detailed characterization of LILRB3/LILRA6 genetic variation and highlight the need for determining their ligands.
Article
Microbiology
Alaska Pokhrel, Liping Li, Francesca L. L. Short, Ian T. T. Paulsen
Summary: A series of all-synthetic allelic exchange vectors have been constructed for targeted genetic studies in highly drug resistant A. baumannii isolates. This method allows for rapid plasmid construction, efficient conjugational transfer, positive selection using suitable markers, and sucrose-dependent counter-selection to obtain scar-less deletion mutants. The method is believed to be effective for genetic manipulation studies in multidrug resistant Gram-negative bacterial strains.
Article
Biochemical Research Methods
Konstantinn Bonnet, Tobias Marschall, Daniel Doerr
Summary: Homologous recombination plays a crucial role in human inheritance and population genetic properties. However, non-allelic homologous recombination (NAHR) between different copies of the same sequence can also lead to genomic rearrangements and contribute to genomic disorders. The lack of computational models to study genomic loci prone to NAHR is a gap that needs to be addressed.
ALGORITHMS FOR MOLECULAR BIOLOGY
(2023)
Article
Genetics & Heredity
Maria E. Morales, Tiffany Kaul, JaNiece Walker, Chelsea Everett, Travis White, Prescott Deininger
Summary: Alu elements, the most abundant source of nonallelic homology in the human genome, play a crucial role in genetic instability. Alu mismatches influence various DNA recombination processes, leading to deletions with different mechanisms depending on DNA repair defects.
Article
Genetics & Heredity
Vaclav Gergelits, Emil Parvanov, Petr Simecek, Jiri Forejt
Summary: This study identified and characterized a chromosome-wide set of noncrossovers in mice by next-generation sequencing. Noncrossovers were found to have a significantly different length and distribution compared to crossovers, potentially related to asymmetric DSBs in the repair pathway, with implications for the molecular mechanism of hybrid sterility in mice.
Review
Genetics & Heredity
Charlotte Audoynaud, Stephan Vagner, Sarah Lambert
Summary: RNAs and associated proteins, including RNA binding proteins, may regulate NHEJ during DNA replication to sustain genome stability.
TRENDS IN GENETICS
(2021)
Article
Biotechnology & Applied Microbiology
Mehmet Tufan Oz, Angelika Altpeter, Ratna Karan, Aldo Merotto, Fredy Altpeter
Summary: The study successfully achieved efficient and reproducible gene targeting in sugarcane, allowing precise co-editing of multiple alleles to improve crop tolerance and yield.
FRONTIERS IN GENOME EDITING
(2021)
Article
Psychology, Clinical
Trevor Steward, Ignacio Martinez-Zalacain, Gemma Mestre-Bach, Isabel Sanchez, Nadine Riesco, Susana Jimenez-Murcia, Jose A. Fernandez-Formoso, Misericordia Veciana de las Heras, Nuria Custal, Jose M. Menchon, Carles Soriano-Mas, Fernando Fernandez-Aranda
Summary: The study found that patients with anorexia nervosa exhibited abnormal fronto-amygdalar response during emotion regulation, which may be associated with treatment response and clinical severity.
PSYCHOLOGICAL MEDICINE
(2022)
Correction
Genetics & Heredity
Eva Lopez, Carlos Casasnovas, Javier Gimenez, Antoni Matilla-Duenas, Ivelisse Sanchez, Victor Volpini
Article
Clinical Neurology
Elena Cortes-Vicente, Rodrigo Alvarez-Velasco, Francesc Pla-Junca, Ricard Rojas-Garcia, Carmen Paradas, Teresa Sevilla, Carlos Casasnovas, Maria Teresa Gomez-Caravaca, Julio Pardo, Alba Ramos-Fransi, Ana Lara Pelayo-Negro, Gerardo Gutierrez-Gutierrez, Janina Turon-Sans, Adolfo Lopez de Munain, Antonio Guerrero-Sola, Ivonne Jerico, Maria Asuncion Martin, Maria Dolores Mendoza, German Moris, Beatriz Velez-Gomez, Tania Garcia-Sobrino, Elba Pascual-Goni, David Reyes-Leiva, Isabel Illa, Eduard Gallardo
Summary: This study identified that 8.5% of MG patients were drug-refractory, with these patients being more commonly female, younger at onset, and more likely to have a generalized form of the disease, bulbar symptoms, and life-threatening events compared to non-drug-refractory patients. A significant percentage of drug-refractory patients experienced side effects to the drugs used, while a larger proportion of non-drug-refractory patients achieved remission or minimal manifestations at the end of follow-up. New more specific drugs are needed to effectively treat drug-refractory MG patients.
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
(2022)
Article
Psychology, Clinical
Isabel Krug, Sarah Elizabeth Giles, Roser Granero, Zaida Aguera, Isabel Sanchez, Jessica Sanchez-Gonzalez, Susana Jimenez-Murcia, Fernando Fernandez-Aranda
Summary: The study found that PD is a clinically significant disorder, which is more similar to BN than it is to AN and the other ED subtypes.
EUROPEAN EATING DISORDERS REVIEW
(2022)
Article
Psychiatry
Cristina Vintro-Alcaraz, Lucero Munguia, Roser Granero, Anahi Gaspar-Perez, Neus Sole-Morata, Isabel Sanchez, Jessica Sanchez-Gonzalez, Jose M. Menchon, Susana Jimenez-Murcia, Fernando Fernandez-Aranda
Summary: This study confirms that emotion regulation is a transdiagnostic construct between eating disorders and gambling disorder through joint clinical clustering analysis. The severity of emotion regulation difficulties is linearly related to the severity of the disorders and psychopathological state. The study also found that treatment response is associated with different emotion regulation subgroups, suggesting the need for tailored treatments for patients with poor emotion regulation abilities.
JOURNAL OF BEHAVIORAL ADDICTIONS
(2022)
Article
Psychology, Clinical
Isabel Sanchez, Ignacio Lucas, Lucero Munguia, Lucia Camacho-Barcia, Monica Gimenez, Jessica Sanchez-Gonzalez, Roser Granero, Neus Sole-Morata, Ashley Gearhard, Carlos Dieguez, Susana Jimenez-Murcia, Fernando Fernandez-Aranda
Summary: Food addiction (FA) was more prevalent in patients with binge-purge AN compared to the restrictive subtype, suggesting that the presence of FA may indicate a possible crossover from AN-R to AN-BP. Patients with AN-R FA+ exhibited more similarities with the AN-BP subgroup than with those without FA, both in terms of eating disorder symptomatology and personality traits.
EUROPEAN EATING DISORDERS REVIEW
(2022)
Article
Psychiatry
Eduardo Valenciano-Mendoza, Fernando Fernandez-Aranda, Roser Granero, Cristina Vintro-Alcaraz, Bernat Mora-Maltas, Susana Valero-Solis, Isabel Sanchez, Jessica Jimenez-De Toro, Monica Gomez-Pena, Laura Moragas, Susana Jimenez-Murcia
Summary: This study aimed to compare the common and differential vulnerability factors behind suicide attempts in patients with bulimic spectrum eating disorders (BSED) and gambling disorder (GD). The results showed that while both disorders shared some vulnerability factors, there were also specific risk factors for each disorder. Therefore, interventions need to address both the common and specific vulnerability factors to mitigate the risk of suicidal acts.
JOURNAL OF BEHAVIORAL ADDICTIONS
(2022)
Article
Psychiatry
Isabel Baenas, Romina Miranda-Olivos, Roser Granero, Neus Sole-Morata, Isabel Sanchez, Antoni Pastor, Amparo del Pino-Gutierrez, Ester Codina, Francisco J. Tinahones, Jose A. Fernandez-Formoso, Nuria Vilarrasa, Fernando Guerrero-Perez, Rafael Lopez-Urdiales, Nuria Virgili, Carles Soriano-Mas, Susana Jimenez-Murcia, Rafael de la Torre, Fernando Fernandez-Aranda
Summary: This study analyzed the aberrant functioning of the endocannabinoid system and its correlation with clinical variables and BMI in individuals with extreme weight conditions (EWCs). The results suggest that there is an interaction between biological and clinical factors that contribute to vulnerability pathways in EWC and could contribute to personalized therapeutic approaches.
EUROPEAN PSYCHIATRY
(2023)
Article
Psychiatry
Maria Lozano-Madrid, Roser Granero, Ignacio Lucas, Isabel Sanchez, Jessica Sanchez-Gonzalez, Monica Gomez-Pena, Laura Moragas, Nuria Mallorqui-Bague, Javier Tapia, Susana Jimenez-Murcia, Fernando Fernandez-Aranda
Summary: The study found that both GD and BSD patients exhibited elevated levels of impulsivity and compulsivity in all dimensions compared to healthy controls. Additionally, GD patients showed high novelty seeking while BSDs displayed low persistence and high harm avoidance. There was also a trend towards greater impulsive choice in BSD patients compared to GD patients. In terms of sex effects, GD women showed higher overall impulsivity and compulsivity compared to GD men, while no sex differences were found in BSD patients.
EUROPEAN PSYCHIATRY
(2023)
Article
Endocrinology & Metabolism
Pablo Maturana-Quijada, Trevor Steward, Nuria Vilarrasa, Romina Miranda-Olivos, Susana Jimenez-Murcia, Holly J. Carey, Jose-Antonio Fernandez-Formoso, Fernando Guerrero-Perez, Isabel Sanchez, Nuria Custal, Nuria Virgili, Rafael Lopez-Urdiales, Carles Soriano-Mas, Fernando Fernandez-Aranda
Summary: This study found that individuals with higher weight showed hypoactivity in prefrontal regulatory systems during emotional regulation, leading to difficulties in inhibiting amygdala activity. These findings suggest that alterations in fronto-amygdalar connectivity contribute to difficulties in regulating negative affect in individuals with higher weight.
Article
Psychology, Clinical
Isabel Krug, An Binh Dang, Isabel Sanchez, Roser Granero, Zaida Aguera, Anahi Gaspar-Perez, Susana Jimenez-Murcia, Fernando Fernandez-Aranda
Summary: This study assessed the clinical utility of different severity classifications for males with anorexia nervosa and bulimia nervosa and found that the categorization based on drive for thinness showed more significant clinical findings than the DSM-5 severity indices.
Review
Clinical Neurology
Carlos Casasnovas, Laura Llado, Cristina Borrachero, Patricia Valentina Perez-Santamaria, Francisco Munoz-Beamud, Ines Asuncion Losada-Lopez, Maria Carme Baliellas-Comellas, Juan Gonzalez-Moreno
Summary: Orthotopic liver transplantation (OLT) is the first treatment that can modify the natural course of hereditary transthyretin (ATTRv) amyloidosis. It dramatically reduces the production of pathogenic transthyretin (TTR) variant, but amyloidosis progression may still occur after OLT due to wild-type TTR deposition.
THERAPEUTIC ADVANCES IN NEUROLOGICAL DISORDERS
(2023)
Article
Medicine, Research & Experimental
Laura Planas-Serra, Nathalie Launay, Leire Goicoechea, Benedicte Heron, Cristina Jou, Natalia Julia-Palacios, Montserrat Ruiz, Stephane Fourcade, Carlos Casasnovas, Carolina De La Torre, Antoinette Gelot, Maria Marsal, Pablo Loza-Alvarez, Angels Garcia-Cazorla, Ali Fatemi, Isidre Ferrer, Manel Portero-Otin, Estela Area-Gomez, Aurora Pujol
Summary: Sphingolipids play important roles as membrane constituents and signaling molecules, and are crucial in human diseases, such as neurodevelopmental disorders and cancer. The deficiency in the DEGS1 enzyme, which functions in the sphingolipid pathway, is associated with hypomyelinating leukodystrophy-18 (HLD18). This study reveals that DEGS1 is a mitochondria-associated endoplasmic reticulum membrane-resident enzyme, and its deficiency disrupts core functions of the mitochondria-associated endoplasmic reticulum membrane, resulting in various dysfunctions related to mitochondrial dynamics, cholesterol metabolism, phospholipid metabolism, and lipid droplet biogenesis.
JOURNAL OF CLINICAL INVESTIGATION
(2023)
Article
Clinical Neurology
Marc Corral-Juan, Pilar Casquero, Natalia Giraldo-Restrepo, Steve Laurie, Alicia Martinez-Pineiro, Raidili Cristina Mateo-Montero, Lourdes Ispierto, Dolores Vilas, Eduardo Tolosa, Victor Volpini, Ramiro Alvarez-Ramo, Ivelisse Sanchez, Antoni Matilla-Duenas
Summary: This study identified a novel subtype of spinocerebellar ataxia, SCA49, caused by a mutation in the SAMD9L gene, presenting with distinct neuropathological features and mitochondrial dysfunction. The study suggests a role of SAMD9L in neurological motor and sensory functions through its effects on mitochondrial dynamics.
BRAIN COMMUNICATIONS
(2022)