Neuroscience letters
-
Neuroscience letters · Sep 2019
ReviewGene editing based hearing impairment research and therapeutics.
Hearing impairment affects 1 in 500 newborns worldwide and nearly one out of three people over the age of 65 (WHO, 2019). Hereditary hearing loss is the most common type of congenital deafness; genetic factors also affect deafness susceptibility. ⋯ CRISPR-Cas9 and base editors (BEs) are newly developed gene editing technologies that can facilitate gene studies in the inner ear and provide therapeutic approaches for hearing impairment. Here, we present recent applications of gene editing in the inner ear.
-
Neuroscience letters · Jul 2019
ReviewPsychosocial and affective comorbidities in sickle cell disease.
Psychosocial and affective comorbidities are common in sickle cell disease (SCD) and can strongly influence disease outcomes, especially those related to pain such as frequency and intensity of pain, use of emergency- and hospital-based care and opioid use. Depression, anxiety, sleep disorders, and substance use challenges are among the common comorbidities that inform the patient experience of SCD. ⋯ In this mini-review, we discuss psychosocial and affective disorders that can coexist in children and adults with SCD and highlight how these common psychological pathologies may interact with complications associated with SCD. Patients with SCD should be screened for these comorbidities using standardized screening tools and managed appropriately to improve outcomes.
-
Neuroscience letters · Jul 2019
ReviewSensitization of nociceptors and dorsal horn neurons contributes to pain in sickle cell disease.
Sickle cell disease (SCD) describes a group of disorders associated with a point mutation in the beta chain of hemoglobin. The mutation leads to the creation of sickle hemoglobin (HbS) and causes distortion of erythrocytes through polymerization under low oxygen, resulting in characteristic sickle red blood cells. Vaso-occlusion episodes caused by accumulation of sRBCs results in ischemia-reperfusion injury, reduced oxygen supply to organs, oxidative stress, organ damage and severe pain that often requires hospitalization and opioid treatment. ⋯ Progress towards the development of novel strategies for both acute and chronic pain in patients with SCD has been impeded by a lack of understanding the mechanisms underlying pain in SCD. The purpose of this review is to highlight evidence for the contribution of peripheral and central sensitization that leads to widespread, chronic pain and hyperalgesia. Targeting the mechanisms that initiate and maintain sensitization in SCD might offer effective approaches to manage the severe and debilitating pain associated with this condition.
-
Neuroscience letters · Jan 2019
ReviewWhy do so many genetic insults lead to Purkinje Cell degeneration and spinocerebellar ataxia?
The genetically heterozygous spinocerebellar ataxias are all characterized by cerebellar atrophy and pervasive Purkinje Cell degeneration. Up to date, more than 35 functionally diverse spinocerebellar ataxia genes have been identified. ⋯ In this review, we discuss the current consensus on shared mechanisms underlying the pervasive Purkinje Cell loss in spinocerebellar ataxia. Additionally, using recently published cell type specific expression data, we identified several Purkinje Cell-specific genes and discuss how the corresponding pathways might underlie the vulnerability of Purkinje Cells in response to the diverse genetic insults causing spinocerebellar ataxia.
-
Neuroscience letters · Mar 2018
ReviewPersonalized medicine: Prediction of disease vulnerability in mood disorders.
Personalized or precision medicine is a medical discipline that proposes tailoring health care to each individual by integrating data from their genetic makeup, epigenetic modifications, other biomarkers, clinical symptoms and environmental exposures. Currently, patients typically present for treatment of mood disorders relatively late in the disease course and this is of great concern both because delay in attaining remission reduces the success of subsequent treatment and depressive episodes have negative cumulative effects on the brain and body. ⋯ We will review non-biological risk factors, genetic factors, epigenetic factors, as well as the roll of neuroimaging and electroencephalograms. Putting together this information will poise psychiatrists to make biological, system-based evaluations for their patients.