Autosomal recessive cardiomyopathy and sudden cardiac death associated with variants in MYL3.

PURPOSE: Variants in genes encoding sarcomeric proteins are the most common cause of inherited cardiomyopathies. However, the underlying genetic cause remains unknown in many cases. We used exome sequencing to reveal the genetic etiology in patients with recessive familial cardiomyopathy. METHODS: Exome sequencing was carried out in three consanguineous families. Functional assessment of the variants was performed. RESULTS: Affected individuals presented with hypertrophic or dilated cardiomyopathy of variable severity from infantile- to early adulthood-onset and sudden cardiac death. We identified a homozygous missense substitution (c.170C>A, p.[Ala57Asp]), a homozygous translation stop codon variant (c.106G>T, p.[Glu36Ter]), and a presumable homozygous essential splice acceptor variant (c.482-1G>A, predicted to result in skipping of exon 5). Morpholino knockdown of the MYL3 orthologue in zebrafish, cmlc1, resulted in compromised cardiac function, which could not be rescued by reintroduction of MYL3 carrying either the nonsense c.106G>T or the missense c.170C>A variants. Minigene assay of the c.482-1G>A variant indicated a splicing defect likely resulting in disruption of the EF-hand Ca2+ binding domains. CONCLUSIONS: Our data demonstrate that homozygous MYL3 loss-of-function variants can cause of recessive cardiomyopathy and occurrence of sudden cardiac death, most likely due to impaired or loss of myosin essential light chain function

Microbial-Assisted Phytoremediation: A Convenient Use of Plant and Microbes to Clean Up Soils

Environmental pollution by metal(loid)s (e.g., heavy metals—HMs) is a severe problem worldwide, as soils and aquatic resources became increasingly contaminated, threatening land ecosystems, surface and groundwater, as well as food safety and human health. The primary sources contributing to this extended pollution are anthropogenic inputs related to the burning of fossil fuels, mining and continued industrial activities, disposal of municipal solid wastes and wastewater discharges or use for irrigation, and excessive utilization of fertilizers and pesticides. A consequence of these anthropogenic activities is an increase of contaminated areas, which should be remediated to prevent or mitigate transfer of contaminants into terrestrial, atmospheric, or aquatic environments. Point and diffuse contamination by organic and inorganic pollutants causes wide concerns, and intentional or accidental introduction of these substances in the environment may represent serious impacts on public health