An autosomal recessive leucoencephalopathy with ischemic stroke, dysmorphic syndrome and retinitis pigmentosa maps to chromosome 17q24.2-25.3

Background Single-gene disorders related to ischemic stroke seem to be an important cause of stroke in young patients without known risk factors. To identify new genes responsible of such diseases, we studied a consanguineous Moroccan family with three affected individuals displaying hereditary leucoencephalopathy with ischemic stroke, dysmorphic syndrome and retinitis pigmentosa that appears to segregate in autosomal recessive pattern. Methods All family members underwent neurological and radiological examinations. A genome wide search was conducted in this family using the ABI PRISM linkage mapping set version 2.5 from Applied Biosystems. Six candidate genes within the region linked to the disease were screened for mutations by direct sequencing. Results Evidence of linkage was obtained on chromosome 17q24.2-25.3. Analysis of recombination events and LOD score calculation suggests linkage of the responsible gene in a genetic interval of 11 Mb located between D17S789 and D17S1806 with a maximal multipoint LOD score of 2.90. Sequencing of seven candidate genes in this locus, ATP5H, FDXR, SLC25A19, MCT8, CYGB, KCNJ16 and GRIN2C, identified three missense mutations in the FDXR gene which were also found in a homozygous state in three healthy controls, suggesting that these variants are not disease-causing mutations in the family. Conclusion A novel locus for leucoencephalopathy with ischemic stroke, dysmorphic syndrome and retinitis pigmentosa has been mapped to chromosome 17q24.2-25.3 in a consanguineous Moroccan family

Cytotoxic activity, acute and sub-acute toxicity of methanolic root extract of Corrigiola telephiifolia pourr

International audienc

Synchrotron X-Ray-Based Functional and Anatomical Lung Imaging Techniques

Lung diseases are a major burden of public health especially in developed countries and therefore continue to be an active interest in preclinical and clinical research. Due to the complex structure and motion of the lung, an in vivo or in situ analysis would be very beneficial. However, this is very challenging for virtually all imaging technologies in small animal models of lung disease due to the small size of the organ and its rapid breathing motion. To study lung disease in detail, the interaction of molecular events, anatomical alterations, and changes in the lung function need to be assessed in parallel. The use of synchrotron light sources has enabled the development of several lung imaging techniques such as phase-contrast CT, 4D lung imaging, virtual histology of lung tissue, k-edge subtraction imaging for measuring regional lung ventilation and perfusion, as well as speckle-based airflow measurements. The application of these techniques has allowed to gain more insight into anatomical alterations as well as functional parameters in small animal lung disease models, which will be demonstrated in this chapter