Medical genetics: advances in brief: Wolfram syndrome: a mitochondrial-mediated disorder?

Recent advances in medical genetics.

Wolfram syndrome.

Wolfram syndrome is a rare neurodegenerative and genetic disorder, which should be suspected in patients with young onset non-immune insulin dependent diabetes mellitus and optic atrophy. Patients are most likely to develop diabetes insipidus, deafness, urinary tract, and neurological abnormalities. 60% of the people with Wolfram syndrome die at age 35, usually due to central respiratory center...

A Case of Wolfram Syndrome

PURPOSE To report a case of Wolfram syndrome characterized by early onset diabetes mellitus and progressive optic atrophy. CASE REPORT A 20-year-old male patient with diabetes mellitus type I presented with best corrected visual acuity of 1/10 in both eyes with correction of -0.25+1.50@55 and -0.25+1.50@131 in his right and left eyes, respectively. Bilateral optic atrophy was evident on fundu...

Radiological findings in Wolfram syndrome.

OBJECTIVE To determine the precise radiologic findings in Wolfram syndrome (WFS) patients using objective techniques in order to better define the reference population for the clinical evaluation. METHODS Sixteen patients (6 males and 10 females) with WFS found in 4 families were included in this study. Fourteen patients with WFS-2 came from 3 families while 2 patients with WFS-1 from one fam...

Mitochondrial hepatopathies: advances in genetics, therapeutic approaches, and outcomes.

C ellular mitochondria play important roles in the production of energy required by human cells, thermogenesis, calcium and iron homeostasis, innate immune responses, production of reactive oxygen species, and programmed cell death (apoptosis). Approximately 1000 nuclear genes encoding mitochondrial proteins have been identified to date. A mutation in any of these genes has the potential to giv...