Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Carnitine O-Palmitoyltransferase 1, Leber-Isoform

Das CPT1A-Gen kodiert eine mitochondriales Transportprotein, welche an der beta-Oxidation von Fettsäuren beteiligt ist. Mutationen sind für den autosomal rezessiven hepatischen CPT-Mangel Typ 1A verantwortlich. Epigenetische Modifikation in diesem Gen wurde im Zusammenhang mit Fettstoffwechselstörungen beobachtet.

Diagnostik:

Clinic Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Research Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA
Research Untersuchungsmethoden Methylisierungsanalyse
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Hepatischer CPT-Mangel Typ 1A
CPT1A
Epigenetische Dyslipidämie
ABCG1
CPT1A
MIR33B
SREBF1
TNIP1
TNNT1

Referenzen:

1.

Braun KV et. al. (2016) The role of DNA methylation in dyslipidaemia: A systematic review.

[^]
2.

Pfeiffer L et. al. (2015) DNA methylation of lipid-related genes affects blood lipid levels.

[^]
3.

None (1988) Carnitine.

[^]
4.

Murthy MS et. al. (1987) Malonyl-CoA binding site and the overt carnitine palmitoyltransferase activity reside on the opposite sides of the outer mitochondrial membrane.

[^]
5.

Zierz S et. al. (1985) Regulatory properties of a mutant carnitine palmitoyltransferase in human skeletal muscle.

[^]
6.

Bergstrom JD et. al. (1980) Studies on carnitine palmitoyl transferase: the similar nature of CPTi (inner form) and CPTo (outer form).

[^]
7.

Britton CH et. al. (1995) Human liver mitochondrial carnitine palmitoyltransferase I: characterization of its cDNA and chromosomal localization and partial analysis of the gene.

[^]
8.

Esser V et. al. (1993) Cloning, sequencing, and expression of a cDNA encoding rat liver carnitine palmitoyltransferase I. Direct evidence that a single polypeptide is involved in inhibitor interaction and catalytic function.

[^]
9.

Slama A et. al. (1996) Complementation analysis of carnitine palmitoyltransferase I and II defects.

[^]
10.

Schaefer J et. al. (1997) Characterisation of carnitine palmitoyltransferases in patients with a carnitine palmitoyltransferase deficiency: implications for diagnosis and therapy.

[^]
11.

Britton CH et. al. (1997) Fine chromosome mapping of the genes for human liver and muscle carnitine palmitoyltransferase I (CPT1A and CPT1B).

[^]
12.

IJlst L et. al. (1998) Molecular basis of hepatic carnitine palmitoyltransferase I deficiency.

[^]
13.

Prip-Buus C et. al. (2001) Molecular and enzymatic characterization of a unique carnitine palmitoyltransferase 1A mutation in the Hutterite community.

[^]
14.

Ogawa E et. al. (2002) Expression analysis of two mutations in carnitine palmitoyltransferase IA deficiency.

[^]
15.

Gobin S et. al. (2002) Organization of the human liver carnitine palmitoyltransferase 1 gene ( CPT1A) and identification of novel mutations in hypoketotic hypoglycaemia.

[^]
16.

Obici S et. al. (2003) Inhibition of hypothalamic carnitine palmitoyltransferase-1 decreases food intake and glucose production.

[^]
17.

Gobin S et. al. (2003) Functional and structural basis of carnitine palmitoyltransferase 1A deficiency.

[^]
18.

Schoors S et. al. (2015) Fatty acid carbon is essential for dNTP synthesis in endothelial cells.

[^]
19.

Irvin MR et. al. (2014) Epigenome-wide association study of fasting blood lipids in the Genetics of Lipid-lowering Drugs and Diet Network study.

[^]

 

 
Ihre Nachricht: