Dagmara Kabzińska

Emery-Dreifuss muscular dystrophy type 2 associated (?) with mild peripheral polyneuropathy

In recent years numerous mutations in the LMNA gene encoding lamin A/C were shown to segregate with a wide spectrum of phenotypes. A recurrent p.R377H mutation in the LMNA gene was reported in patients with Emery-Dreifuss dystrophy (EDMD2) with various ethnic backgrounds. We present a patient with EDMD2 caused by a p.R377H mutation, associated with mild peripheral polyneuropathy. The analysis of peripheral myelin protein 22 (PMP22), ganglioside induced differentiation-associated protein 1 (GDAP1), gap junction β-1 protein (GJB1), and myelin protein zero (MPZ) genes did not reveal mutations; however, we identified a new sequence intronic variant in the mitofusin 2 (MFN2) gene of unknown pathogenic significance. A complex phenotype in the presented patient might depend either on single mutation in the LMNA gene or on bigenic defect; therefore, a wide genetic investigation is needed to elucidate the molecular background of EDMD2/polyneuropathy in this case.

Mitochondrial DNA in Polish Centenarians

Mitochondrial haplogroups can differ in frequency of occurrence in those who are 100 years old and in the rest of the population. These differences are not universally observed; moreover, they are population-specific. We analyzed the haplogroups in 97 Polish 100-year-olds and compared them with those of more than 145 people who served as controls. No statistically significant differences were observed. In additions, we checked D-loop sequences in 31 controls and in some of the centenarians. Statistically significant differences were found for sites 73 and 152 in the D-loop.