Page 128 - Read Online

Page 122 Chan et al. J Transl Genet Genom 2024;8:13-34 https://dx.doi.org/10.20517/jtgg.2023.36

Mitochondrial diabetes

Insulin resistance
AKT2 AKT serine/threonine kinase 2
INSR Insulin receptor
LMNA Lamin A/C
PLIN1 Perilipin 1
POLD1 DNA polymerase delta 1, catalytic subunit
PPARG Peroxisome proliferator-activated receptor gamma

Lipodystrophy
AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2
BSCL2 BSCL2 lipid droplet biogenesis associated, seipin
CAV1 Caveolin 1
CIDEC Cell death-inducing DFFA-like effector c
AKT2 AKT serine/threonine kinase 2
LMNA Lamin A/C
PLIN1 Perilipin 1
PPARG Peroxisome proliferator-activated receptor gamma
CAVIN1 (PTRF) Caveolae-associated protein 1
ZMPSTE24 Zinc metallopeptidase STE24

Figure 2. A schematic diagram showing the different types of monogenic diabetes often due to a mutation in a single gene with
different clinical presentation, phenotypes, and mode of inheritance.

Hepatic nuclear factor 1 alpha
In the early 1990s, our group reported the first Chinese MODY family. The index patient was a young
woman who presented with polyuria and polydipsia in her early 20s. Clinical examination showed severe
retinopathy and proteinuria. An inquiry of family history revealed that her mother died of combined heart
and kidney failure in her 50s and her grandmother died in her early 60s. Her elder sister presented with
blindness due to severe retinopathy in her late 20s. One younger sister was detected to have diabetes during
a minor operation at the age of 12 and has been on insulin ever since. The remaining two siblings