+ Resolve Article
+ Follow Us
Follow on FacebookFollow on Facebook
Follow on TwitterFollow on Twitter

+ Translate
+ Subscribe to Site Feed
GeoScience Most Shared ContentMost Shared Content

Diabetes mellitus in a new kindred with familial hypobetalipoproteinemia and an apolipoprotein B truncation (apoB-55)

, : Diabetes mellitus in a new kindred with familial hypobetalipoproteinemia and an apolipoprotein B truncation (apoB-55). Atherosclerosis 136(2): 289-295

Familial hypobetalipoproteinemia is an autosomal co-dominant disorder, which in a minority of cases is due to a truncation producing mutation in the apoB gene. We have identified an apoB mutation in a 40-year old hypobetalipoproteinemic man with Type II diabetes mellitus. Immunoblotting of plasma revealed a major band for apoB-100 and a minor band with estimated size between apoB-52 and apoB-55. The proband's 75-year old father with Type II diabetes and a non-diabetic daughter also possessed the truncated protein. Direct sequencing of the amplified fragment of genomic DNA revealed a C fwdarw T transition at nt 7692 in exon 26 of the apoB gene. This substitution yielded a premature stop codon at residue 2495 and abolished a BsaI restriction endonuclease site. The identical mutation has been described previously; however, the genotypes and ancestors of the kindred were different, suggesting that the mutation may have occurred independently. The majority of apoB-55 was eluted as particles smaller than LDL-sized apoB-100, and floated mostly between the LDL and HDL density range. It is worth noting that despite the presence of Type II diabetes, both the proband and his father have very low plasma lipid levels and neither have any clinically manifest macrovascular complications.


PMID: 9543100

DOI: 10.1016/s0021-9150(97)00222-0

Other references

Aubert, Sébastien., 2008: Adrenal cortex tumors: a lesion continuum?. Annales de Pathologie 28 Spec No 1(1): S39-S41

Liu, C.Feng.; Tung, Y.Ting.; Wu, C.Lun.; Lee, B-Hong.; Hsu, W-Hsuan.; Pan, T.Ming., 2011: Antihypertensive effects of Lactobacillus-fermented milk orally administered to spontaneously hypertensive rats. Products fermented with lactic acid bacteria may show antihypertensive effects via substances such as angiotensin I-converting enzyme inhibitor (ACEI) and γ-aminobutyric acid (GABA). It was previously found that milk fermented with Lactobacillus...

Mcintosh, A.M.; Wilson, S.J.; Berkovic, S.F., 2001: Seizure outcome after temporal lobectomy: Current research practice and findings. Purpose: The literature regarding seizure outcome and prognostic factors for outcome after temporal lobectomy is often contradictory. This is problematic, as these data are the basis on which surgical decisions and counseling are founded. We sough...

Rappard, P.W., 1949: Verband in een Oost-Javaanse Bantengkudde. Chronica Naturae Batavia, 105: 243-247

Socor, E.C.rnelia, M., 1974: The influence of the agricultural meteorological conditions on the zoning of the agricultural production of maize in 1973. Hidrotehnica 19 (1) 28-32

Stoykov, S., 1983: Preliminary data on age and growth of the soft clam Mya arenaria L., of the Bulgarian coast. Izvestiya na Instituta po Ribni Resursi - Varna, 20: 161-167

White, R.J.; Plaxco, K.W., 2009: Engineering New Aptamer Geometries for Electrochemical Aptamer-Based Sensors. Electrochemical aptamer-based sensors (E-AB sensors) represent a promising new approach to the detection of small molecules. E-AB sensors comprise an aptamer that is attached at one end to an electrode surface. The distal end of the aptamer probed...

Flores-Díaz, E.; Sereday, K.A.; Ferreira, S.; Sirak, B.; Sobrinho, Jão.Simão.; Baggio, M.Luiza.; Galan, L.; Silva, R.C.; Lazcano-Ponce, E.; Giuliano, A.R.; Villa, L.L.; Sichero, L., 2016: HPV-6 Molecular Variants Association With the Development of Genital Warts in Men: The HIM Study. Label="Background">Human papillomavirus type 6 (HPV-6) and HPV-11 are the etiological agents of approximately 90% of genital warts (GWs). The impact of HPV-6 genetic heterogeneity on persistence and progression to GWs remains undeterm...

Tada, K.; Yamaha, M.; Tamura, M.; Fujihiro, S.; Kawada, Y., 1990: Two cases of benign polyps of the posterior urethra (ectopic prostatic tissue). We report two cases of benign polyps of the posterior urethra. Their first symptoms were gross hematuria and urinary frequency. Both specimens obtained by transurethral resection were histologically identified as prostatic tissue. Discussion on be...

Galan C., 1984: The Aonda sima, -362m; Venezuela. Spelunca (4e Serie) 14: 14-17