1.Stabilization of the thermolabile variant S113L of carnitine palmitoyltransferase II.
Motlagh L1, Golbik R1, Sippl W1, Zierz S1. Neurol Genet. 2016 Feb 25;2(2):e53. doi: 10.1212/NXG.0000000000000053. eCollection 2016.
OBJECTIVE: Muscle carnitine palmitoyltransferase (CPT) II deficiency, the most common defect of lipid metabolism in muscle, is characterized by attacks of myoglobinuria without persistent muscle weakness.
2.The histopathologic effects of L-carnitine in Sodium Taurocholate Induced Severe Pancreatitis Model.
Karakahya M1, Gül M2, Işık S3, Aydın C4, Yiğitcan B5, Otan E6, Orug T7. Int Surg. 2016 Apr 27. [Epub ahead of print]
OBJECTIVE: To evaluate the histopathologic effects of L-carnitine (LC) in an experimental severe pancreatitis (SP) model induced with sodium taurocholate (STC).
3.C26:0-Carnitine Is a New Biomarker for X-Linked Adrenoleukodystrophy in Mice and Man.
van de Beek MC1, Dijkstra IM1, van Lenthe H1, Ofman R1, Goldhaber-Pasillas D2, Schauer N2, Schackmann M1, Engelen-Lee JY3, Vaz FM1, Kulik W1, Wanders RJ1, Engelen M4,3, Kemp S1,4. PLoS One. 2016 Apr 28;11(4):e0154597. doi: 10.1371/journal.pone.0154597. eCollection 2016.
X-linked adrenoleukodystrophy (ALD), a progressive neurodegenerative disease, is caused by mutations in ABCD1 and characterized by very-long-chain fatty acids (VLCFA) accumulation. Virtually all males develop progressive myelopathy (AMN). A subset of patients, however, develops a fatal cerebral demyelinating disease (cerebral ALD). Hematopoietic stem cell transplantation is curative for cerebral ALD provided the procedure is performed in an early stage of the disease. Unfortunately, this narrow therapeutic window is often missed. Therefore, an increasing number of newborn screening programs are including ALD. To identify new biomarkers for ALD, we developed an Abcd1 knockout mouse with enhanced VLCFA synthesis either ubiquitous or restricted to oligodendrocytes. Biochemical analysis revealed VLCFA accumulation in different lipid classes and acylcarnitines. Both C26:0-lysoPC and C26:0-carnitine were highly elevated in brain, spinal cord, but also in bloodspots.
