Three new cases of dilated cardiomyopathy caused by mutations in LMNA gene.

Three cases of delated cardiomyopathy (DCM) with conduction defects (OMIM 115200), limb girdle muscular dystrophy 1B (OMIM 159001) and autosomal dominant Emery-Dreifuss muscular dystrophy 2 (OMIM 181350), all associated with different LMNA mutations are presented. Three heterozygous missense mutations were identified in unrelated patients - p.W520R (c.1558T > C), p.T528R (с.1583С > G) and p.R190P (c.569G > C). We consider these variants as pathogenic, leading to isolated DCM with conduction defects or syndromic DCM forms with limb-girdle muscular dystrophy and Emery-Dreifuss muscular dystrophy. The mutations were not detected in the ethnically matched control group and publicly available population databases. Their de novo occurrence led to the development of the disease that was not previously detected in the extended families. Mutations at the same codons associated with laminopathies have been already reported. Differences in the clinical phenotype for p.R190P and p.T528R carrier patients are shown and compared to previous reports.

The productivity characteristics of substituted barley lines with marked chloroplast and mitochondrial genomes.

We present the effects of cytoplasm substitution on five productivity traits in an alloplasmic barley collection. 60 lines combining 5 nuclear genomes of cultivated barley varieties and 12 plasmons of two barley species (H. vulgare, H. spontaneum) displayed various effects depending on definite nuclei-cytoplasm combinations. Only four cytoplasmic genomes (W1, W4, W5, W10) significantly modified the expression of the nuclear genes controlling productivity. RAPD-PCR analysis revealed that both the mitochondrial and chloroplast DNA of the W1, W5, and W10 lines have common molecular characters distinguishing them from the cytoplasmic genomes of the other lines. The cytoplasmic genetic factors influencing the expression of "productivity" genes remain elusive.