Publications by authors named "Jakob H Langdahl"
Aim: This case-control study aimed to examine impairments in glucose metabolism in non-diabetic carriers of the mitochondrial mutation m.3243A>G by evaluating insulin secretion capacity and sensitivity.
Methods: Glucose metabolism was investigated in 23 non-diabetic m.
Article Synopsis
- Mitochondrial dysfunction is linked to various health issues like diabetes, neurological disorders, and bone problems, but its specific effects on human bone remodeling are unclear.
- A study with 45 individuals carrying the m.3243A>G mutation revealed that they had lower bone density and strength compared to healthy controls, with significant differences in bone scans at key sites like the lumbar spine and hip.
- The presence of diabetes in some participants may have influenced the results, but the findings suggest that mitochondrial dysfunction could lead to accelerated bone aging, resembling age-related bone deterioration.
Boucher Neuhäuser Syndrome (BNS) is a rare clinical syndrome with autosomal recessive inheritance defined by early-onset ataxia, hypogonadism and chorioretinal dystrophy. We present two siblings diagnosed with BNS in late adult life identified with compound heterozygous state of two novel PNPLA6 mutations. Five healthy siblings were non- or heterozygous carriers of the mutations.
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