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Panminerva Medica 2002 December;44(4):295-300

Copyright © 2009 EDIZIONI MINERVA MEDICA

lingua: Inglese

Mitochondrial diabetes, diabetes and the thiamine-responsive megaloblastic anaemia syndrome and MODY-2. Diseases with common pathophysiology?

Maassen J. A.

Department of Molecular Cell Biology Leiden University Medical Centre, Leiden and EVM Institute Medisch Centrum, Vrije Universiteit Amsterdam, the Netherlands


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Diabetes rep­re­sents a con­glom­erate of dis­eases ­with ­chronic hyper­gly­caemia as hall­mark. The ­present ­review dis­cusses ­those dia­betic ­cases ­that asso­ciate ­with var­i­ants in ­genes ­that ­affect the mag­ni­tude of the gly­co­lytic ­flux and oxi­da­tive dis­posal of glu­cose by mito­chon­dria in pan­creatic ­β-­cells. These ­genetic var­i­ants ­result in an atten­u­ated secre­tion of ­insulin in ­response to glu­cose stim­u­la­tion. The dia­betic ­states ­that asso­ciate ­with ­these ­genetic var­i­ants are ­MODY 2, thi­a­mine respon­sive ­anaemia syn­drome (­TRAS) and mit­o­chon­drial dia­betes. These dis­ease ­states high­light the crit­ical con­tri­bu­tion of the car­bo­hy­drate ­flux ­through gly­col­ysis and mito­chon­dria and its ­coupling to ATP pro­duc­tion in deter­mining ­insulin secre­tion.

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