title: [Mitofusin 2 as a crucial peripheral nervous system protein and a common regulator of cell metabolism].
abstract: Some of the metabolic disorders are manifested by a predominantly expressed symptoms from the single organ, however, they display discrete symptoms from other tissues. Charcot Marie Tooth disease (CMT) divided into demyelinating (CMT1) and axonal (CMT2) subtypes is characterized by a slowly progressive wasting of distal muscles. CMT2A form diagnosis requires identification of mutation in a gene coding for mitofusin 2 (MFN2). Mitofusin 2 is a protein of an outer mitochondrial membrane encoded in the nuclear genome and characterized by numerous biochemical functions. Mfn2 is involved mainly in the fusion of mitochondria and the cooperation between endoplasmic reticulum and mitochondria. It seems probably that Mfn2 possesses also some regulatory functions and takes part in a regulation of respiratory chain activity, transcription of several proteins and in intracellular signals transduction. Mfn2-linked pathology is also observed in diabetes and heart diseases. Here, we aim to show that mitofusin 2 is a protein crucial not only for peripheral nerve disorders but is a one of the common regulator of cell metabolism.
authors.affiliation: Pracownia Biologii Molekularnej, Instytut Medycyny Doświadczalnej i Klinicznej im. M. Mossakowskiego PAN, Warszawa.
authors.forename: Maria
authors.initials: M
authors.lastname: Kawalec
authors.forename: Katarzyna
authors.initials: K
authors.lastname: Kotruchow
authors.forename: Andrzej
authors.initials: A
authors.lastname: Kochański
authors.forename: Barbara
authors.initials: B
authors.lastname: Zabłocka
mesh_terms: D000818:Animals; D002607:Charcot-Marie-Tooth Disease / Q000175:diagnosis / Q000235:genetics / Q000378:metabolism; D020558:GTP Phosphohydrolases; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics* / Q000378:metabolism*; D024101:Mitochondrial Proteins / Q000235:genetics* / Q000378:metabolism*; D009154:Mutation; D010523:Peripheral Nervous System Diseases / Q000175:diagnosis* / Q000235:genetics* / Q000378:metabolism
chemical_list: D008565:Membrane Proteins; D024101:Mitochondrial Proteins; D020558:GTP Phosphohydrolases; C470018:MFN2 protein, human