Association of mitochondrial haplogroup J and mtDNA oxidative damage in two different North Spain elderly populations.

This work investigates the association between longevity, mitochondrial DNA (mtDNA) variants and oxidative DNA damage in an older than 85 years population. The participants, similar in genetic and cultural background as well as gender distribution, come from villages near to the Pyrenees Mountains (900-1,400 m altitude) (n = 69) and the Ebro's Valley (200-300 m altitude) (n = 69) in Spain. Our results show an accumulation of the haplogroup J in elderly individuals with an over-representation of J2 in Pyrenees group but not in the Ebro's Valley, the former associating with a diminished DNA damage.

[Polymorphisms in cystathionine beta-synthase and methylenetetrahydrofolate reductase genes as risk factors for cerebral vascular disease].

Background And Objective: High plasma total homocysteine (tHcy), low dietary intake of folate and other B vitamins, and genetic polymorphisms related to the metabolism of homocysteine may interactively contribute to the risk of cerebral vascular disease (CVD). We explored interrelations between total homocysteine levels and mutations in genes for the two key enzymes in methionine-homocysteine metabolism.

Patients And Method: We analyzed two polymorphisms, C677T in the MTHFR gene and 844ins68 in the CBS gene.

On the occurrence of BBB syndrome and hereditary sensory motor neuropathy in the same family.

We report the occurrence of the BBB syndrome and type 1 hereditary sensorimotor neuropathy (HSMN) in the same family: both disorders concurred in two brothers and a third presented only type 1 HSMN. The clinical findings in this family support the idea that the BBB and the G syndromes are variable manifestations of the same entity. The hypothesis that the BBB syndrome and type 1 HSMN might represent a contiguous gene syndrome is, however, not fully supported.

Congenital hypoparathyroidism, ocular colobomata, unilateral renal agenesis and dysmorphic features.

A boy with primary hypoparathyroidism and dysmorphic features suggesting a partial DiGeorge sequence is presented. Different possibilities of genetic counseling are considered in the absence of a definitive etiological diagnosis.