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Renal Fanconi Syndrome Is Caused by a Mistargeting-Based Mitochondriopathy.

Abstract：

:We recently reported an autosomal dominant form of renal Fanconi syndrome caused by a missense mutation in the third codon of the peroxisomal protein EHHADH. The mutation mistargets EHHADH to mitochondria, thereby impairing mitochondrial energy production and, consequently, reabsorption of electrolytes and low-molecular-weight nutrients in the proximal tubule. Here, we further elucidate the molecular mechanism underlying this pathology. We find that mutated EHHADH is incorporated into mitochondrial trifunctional protein (MTP), thereby disturbing β-oxidation of long-chain fatty acids. The resulting MTP deficiency leads to a characteristic accumulation of hydroxyacyl- and acylcarnitines. Mutated EHHADH also limits respiratory complex I and corresponding supercomplex formation, leading to decreases in oxidative phosphorylation capacity, mitochondrial membrane potential maintenance, and ATP generation. Activity of the Na(+)/K(+)-ATPase is thereby diminished, ultimately decreasing the transport activity of the proximal tubule cells.

journal_name

Cell Rep

journal_title

Cell reports

authors

Assmann N,Dettmer K,Simbuerger JMB,Broeker C,Nuernberger N,Renner K,Courtneidge H,Klootwijk ED,Duerkop A,Hall A,Kleta R,Oefner PJ,Reichold M,Reinders J

doi

10.1016/j.celrep.2016.04.037

subject

Has Abstract

pub_date

2016-05-17 00:00:00

pages

1423-1429

issue

7

issn

2211-1247

pii

S2211-1247(16)30464-8

journal_volume

15

pub_type

杂志文章

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