Genetic defect suggests high blood pressure may come from mom

Mar 31, 2011

A specific genetic defect in one Chinese family shows that high blood pressure was inherited from the female parent, researchers report in Circulation Research: Journal of the American Heart Association.

The defect results from a point mutation — the substitution of a single DNA "base" for another during replication — in the genes of a tiny cellular organ called the mitochondria, which generates a cell's energy. When reproductive cells come together to form an embryo, the mitochondrial DNA from the mother cell is passed on to the offspring. Evidence has suggested a mother-child inheritance link for high blood pressure due to mitochondrial inheritance.

The Chinese-led group, which also included researchers from the Cincinnati Children's Hospital Medical Center and the Medical University of Vienna in Austria, provides clinical, genetic, molecular and biochemical evidence that a mitochondrial mutation designated tRNAIle 4263A>G is associated with inherited high blood pressure. The DNA substitution researchers discovered is an adenine-to-guanine switch at position 4263 on the mitochondrial genome (4263A>G).

Geneticists identified a large family from northern China in which 15 of 27 members who descended from the same female ancestor had blood pressures above 140/90 mmHg even after treatment. Only seven of 81 non-maternal relatives had high blood pressure.

Researchers compared the family members with 342 Chinese residents of the same northern area to confirm a maternal link. Analysis of the mitochondrial genome of the maternal relatives and other tests revealed the site of the hypertension-related mutation and showed that it impairs the mitochondrial respiration chain, which increases levels of a reactive oxygen species (i.e., free radicals).

The findings show that inherited mitochondrial dysfunction is involved in and may provide new insights into maternally transmitted hypertension, researchers said.

Explore further: Gene clues to glaucoma risk

add to favorites email to friend print save as pdf

Related Stories

Tracing African-American Ancestry Difficult

Oct 12, 2006

Mitochondrial DNA may not hold the key to unlocking the ancestry of African Americans, according to a study by a University of South Carolina researcher published in this week’s issue of the journal BMC Biology.

Researchers publish DNA identification of czar's children

Feb 25, 2009

Cutting edge science has finally put to rest a 90-year-old mystery that involved nobility, revolution, murder and the long-romanticized story of a child's escape from the firing squad. Genomic analysis performed at the University ...

Recommended for you

Gene clues to glaucoma risk

18 hours ago

Scientists on Sunday said they had identified six genetic variants linked to glaucoma, a discovery that should help earlier diagnosis and better treatment for this often-debilitating eye disease.

Mutation disables innate immune system

Aug 29, 2014

A Ludwig Maximilian University of Munich team has shown that defects in the JAGN1 gene inhibit the function of a specific type of white blood cells, and account for a rare congenital immune deficiency that ...

Study identifies genetic change in autism-related gene

Aug 28, 2014

A new study from Bradley Hospital has identified a genetic change in a recently identified autism-associated gene, which may provide further insight into the causes of autism. The study, now published online in the Journal of ...

NIH issues finalized policy on genomic data sharing

Aug 27, 2014

The National Institutes of Health has issued a final NIH Genomic Data Sharing (GDS) policy to promote data sharing as a way to speed the translation of data into knowledge, products and procedures that improve health while ...

User comments : 0