Ricerc@Sapienza

Primary mitochondrial dysfunction is an under-appreciated cause of cardiomyopathy, especially when cardiac symptoms are the unique or prevalent manifestation of disease. Here, we report an unusual presentation of mitochondrial cardiomyopathy, with dilated phenotype and pathologic evidence of biventricular fibro-adipose replacement, in a 33-year old woman who underwent cardiac transplant. Whole exome sequencing revealed two novel compound heterozygous variants in the TSFM gene, coding for the mitochondrial translation elongation factor EF-Ts.

Primary mitochondrial myopathies (PMM) are a group of mitochondrial disorders characterized by a predominant skeletal muscle involvement. The aim of this study was to evaluate whether the biochemical profile determined by Fourier-transform infrared (FTIR) spectroscopic technique would allow to distinguish among patients affected by progressive external ophthalmoplegia (PEO), the most common PMM presentation, oculopharyngeal muscular dystrophy (OPMD), and healthy controls. Thirty-four participants were enrolled in the study.

Coastal lagoons are resilient and productive ecosystems that support high biological and habitat diversity, but are increasingly affected by several threats due to human exploitation. Many resident species of these environments show a restricted geographical range and a strict association with specific habitats, thus they could represent ecological indicators of these ecosystems.

ACKGROUND:
A number of studies which have investigated isolation patterns in human populations rely on the analysis of intra- and inter-population genetic statistics of mtDNA polymorphisms. However, this approach makes it difficult to differentiate between the effects of long-term genetic isolation and the random fluctuations of statistics due to reduced sample size.
AIM:
To overcome the confounding effect of sample size when detecting signatures of genetic isolation.
SUBJECTS AND METHODS:

The pearly razorfish Xyrichtys novacula (Linnaeus, 1758) is a sedentary benthic species distributed in both sides of the Atlantic Ocean and in the Mediterranean Sea. Previous cytogenetic analysis reported different diploid numbers in samples from Italy, Venezuela and Brazil. This research aims to test the hypothesis that samples from American Atlantic coast and Mediterranean Sea belong to the same single evolutionary lineage, characterized by intra-specific chromosome polymorphism. To this purpose a cytogenetic and molecular (mitochondrial COI sequences) survey was undertaken.

Historically, many local grey wolf (Canis lupus) populations have undergone substantial reductions
in size or become extinct. Among these, the wolf population once living in Sicily, the largest island
in the Mediterranean Sea, was completely eradicated by human activity in the early decades of the
20th century. To gain a better understanding of the genetic identity of the Sicilian wolf, we used
techniques for the study of ancient DNA to analyze the mitochondrial DNA of six specimens stored

Paternal leakage of mitochondrial DNA (mtDNA) and heteroplasmy have been recently described in several animal species. In arthropods, by searching in the Scopus database, we found only 23 documented cases of paternal leakage. Therefore, although arthropods represent a large fraction of animal biodiversity, this phenomenon has been investigated only in a paucity of species in this phylum, thus preventing a reliable estimate of its frequency.