Single cell multiomics reveal divergent effects of DNMT3A and TET2 mutant clonal hematopoiesis in inflammatory response.

DNMT3A and TET2 are epigenetic regulator genes commonly mutated in age-related clonal hematopoiesis (CH). Despite having opposed epigenetic functions, these mutations are associated with increased all-cause mortality and a low risk for progression to hematological neoplasms. While individual impacts on the epigenome have been described using different model systems, the phenotypic complexity in humans remains to be elucidated.

Pontocerebellar hypoplasia type 6: A British case with PEHO-like features.

Six subtypes of autosomal recessive pontocerebellar hypoplasia (PCH) have been identified and the genetic basis of four of these (PCH1, PCH2, PCH4, and PCH6) is known. PCH6 is associated with cerebral atrophy and multiple but variable respiratory chain defects in muscle and has been reported in one consanguineous Sephardic Jewish family. It is caused by mutations in the RARS2 gene which encodes mitochondrial arginine-transfer RNA synthetase.

Mseleni joint disease: a potential model of epigenetic chondrodysplasia.

Objective: In this paper past research on the natural history of Mseleni joint disease, a crippling endemic osteoarthritis, its socio-economic impacts, the demographics, diet, geology and the genetic background of affected people are reviewed. In addition, some new research ideas are suggested to continue the search for etiological avenues for this disease such as stable isotope analysis and epigenetic mechanisms.

Results: Mseleni joint disease is a chondrodysplasia first described in 1970.

South Africa's export trade in asbestos: demise of an industry.

Background: South Africa's export of each of its three types of asbestos, crocidolite, amosite, and chrysotile, and the total amounts to 84 countries in metric tonnes is examined over a 24-year period, 1980-2003.

Methods: For convenience, the countries are divided into nine world regional groups, Europe, Eastern Europe, North America with the Caribbean, South America, Africa, Middle East, Far East, South Asia, and Oceania.

Results: The three greatest importing countries of total asbestos in metric tonnes were all in the Far East region, ranging from Japan, South Korea to Thailand, and followed by USA and Italy.