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Details: Prof Haluk Topaloğlu; Wiki; Published: 08 December 2019; Hits: 2262

Hatice Bektaşa, Haluk Topaloğlua
Department of Paediatric Neurology, Hacettepe Children's Hospital, Ankara, 06100, Turkey

‘Nuclear envelopathies’ are a group of diseases resulting essentially from mutations of the genes encoding parts of the inner nuclear membrane (Emerin, MAN1, LAP2, LBR), nuclear lamina (Lamins A and C; Lamins B1) and outer nuclear membrane (Nesprins) [1) with mutations affecting Emerin, Lamins A/C and Nesprins being rarer compared with other nuclear envelope components. All three have independent disease causing properties in humans, nesprins being the third in chronology. As a historical note, the first emerin mutation was identified in a small cohort of five patients in 1994, and there was one peculiar family from our own cohort [2]. SUN1 and SUN2 are other inner nuclear membrane proteins that play a major role in nuclear-cytoplasmic connection by formation of a ‘bridge’ across the nuclear envelope known as the LINC complex [3]. Overall formation contributes to nuclear positioning and cellular vitality. All are necessary to establish nuclear-cytoskeletal connections and are required in maintaining cellular architecture [4].

Nesprinopathies

Zika virus infection

Lacosamide

Gabapentin

Felbamate

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