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The expression of the distal dystrophin isoforms Dp140 and Dp71 in the human epileptic hippocampus in relation to cognitive functioning
Author(s) -
Hoogland Govert,
Hendriksen Ruben G. F.,
Slegers Rutger J.,
Hendriks Marc P. H.,
Schijns Olaf E. M. G.,
Aalbers Marlien W.,
Vles Johan S. H.
Publication year - 2019
Publication title -
hippocampus
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.767
H-Index - 155
eISSN - 1098-1063
pISSN - 1050-9631
DOI - 10.1002/hipo.23015
Subject(s) - neuroscience , hippocampus , dystrophin , duchenne muscular dystrophy , psychology , epilepsy , cognition , neuropsychology , hippocampal formation , temporal lobe , biology , genetics
Dystrophin is an important protein within the central nervous system. The absence of dystrophin, characterizing Duchenne muscular dystrophy (DMD), is associated with brain related comorbidities such as neurodevelopmental (e.g., cognitive and behavioural) deficits and epilepsy. Especially mutations in the downstream part of the DMD gene affecting the dystrophin isoforms Dp140 and Dp71 are found to be associated with cognitive deficits. However, the function of Dp140 is currently not well understood and its expression pattern has previously been implicated to be developmentally regulated. Therefore, we evaluated Dp140 and Dp71 expression in human hippocampi in relation to cognitive functioning in patients with drug‐resistant temporal lobe epilepsy (TLE) and post‐mortem controls. Hippocampal samples obtained as part of epilepsy surgery were quantitatively analyzed by Western blot and correlations with neuropsychological test results (i.e., memory and intelligence) were examined. First, we demonstrated that the expression of Dp140 does not appear to differ across different ages throughout adulthood. Second, we identified an inverse correlation between memory loss (i.e., verbal and visual memory), but not intelligence (i.e., neither verbal nor performance), and hippocampal Dp140 expression. Finally, patients with TLE appeared to have similar Dp140 expression levels compared to post‐mortem controls without neurological disease. Dp140 may thus have a function in normal cognitive (i.e., episodic memory) processes.