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Mitochondrial Dysfunction may explain symptom variation in Phelan-McDermid Syndrome.

Abstract：

:Phelan-McDermid Syndrome (PMS), which is defined by a deletion within 22q13, demonstrates significant phenotypic variation. Given that six mitochondrial genes are located within 22q13, including complex I and IV genes, we hypothesize that mitochondrial complex activity abnormalities may explain phenotypic variation in PMS symptoms. Complex I, II, II + III and IV activity was measured in 51 PMS participants. Caretakers completed questionnaires and provided genetic information through the PMS foundation registry. Complex activity was abnormal in 59% of PMS participants. Abnormalities were found in complex I and IV but not complex II + III and II activity, consistent with disruption of genes within the 22q13 region. However, complex activity abnormalities were not related to specific gene deletions suggesting a "neighboring effect" of regional deletions on adjacent gene expression. A specific combination of symptoms (autism spectrum disorder, developmental regression, failure-to-thrive, exercise intolerance/fatigue) was associated with complex activity abnormalities. 64% of 106 individuals in the PMS foundation registry who did not have complex activity measured also endorsed this pattern of symptoms. These data suggest that mitochondrial abnormalities, specifically abnormalities in complex I and IV activity, may explain some phenotypic variation in PMS individuals. These results point to novel pathophysiology mechanisms and treatment targets for PMS patients.

journal_name

Sci Rep

journal_title

Scientific reports

authors

Frye RE,Cox D,Slattery J,Tippett M,Kahler S,Granpeesheh D,Damle S,Legido A,Goldenthal MJ

doi

10.1038/srep19544

subject

Has Abstract

pub_date

2016-01-29 00:00:00

pages

19544

issn

2045-2322

pii

srep19544

journal_volume

6

pub_type

杂志文章

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