Tag Archive: Snapshot Science

May 1 2018

Does an Impaired Biological Pathway Help Explain Heart Problems in Huntington’s Disease?

The Findings:

Researchers gained new insights into the heart problems that are the second leading cause of death in patients with Huntington’s disease (HD). An incurable, inherited disease with progressive loss of brain cells and motor function, HD occurs when a defective gene produces repeated copies of a protein called huntingtin, or HTT. The mutant HTT (mHTT) protein disrupts multiple fundamental cellular processes along the mTORC1 pathway that promotes cell growth and metabolism. The study team described how decreased mTORC1 activity contributed to the development of heart disease with stress in mouse models of HD. By restoring cardiac mTORC1 activity, the researchers improved the animals’ heart function and survival over the course of the study.

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Mar 6 2018

Is an Uncommon Genetic Mutation Linked to Vitamin D-dependent Rickets?

The Findings:

Researchers identified a genetic mutation in CYP3A4 that is linked to vitamin D-dependent rickets (VDDR), a childhood disorder associated with impaired growth and skeletal mineralization. Scientists already knew about two other genetic forms of VDDR, but this third kind is caused by a gain-in-function mutation — a random genetic change that confers a new function on a gene — that leads to accelerated inactivation of vitamin D metabolites. This is a new insight into vitamin D metabolism.

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Nov 8 2017

Is Mindfulness Important for Mothers of Babies With Heart Conditions?

The Findings:

A cardiac intensive care unit (CICU) filled with tiny infants connected to collections of tubes and buzzing monitors can be an intimidating and overwhelming place for a mother who is worried about her newborn with congenital heart disease (CHD). A Children’s Hospital of Philadelphia team of nurse researchers conducted a qualitative study in which mothers of babies who have a complex heart condition described the post-diagnostic period, surgery, and the CICU stay as extremely stressful. The researchers also examined mothers’ coping mechanisms, and they identified mindfulness as a potential helpful early intervention tool to reduce mothers’ stress.

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Oct 3 2017

What Are Transcription Errors’ Role in Aging and Disease?

The human genome provides a precise, biological blueprint of life. To implement this blueprint correctly, the genome must be read with great precision, but it’s impossible for this process to be completely error-free. Mistakes during transcription — random errors in how DNA sequences are copied for a gene to be expressed — can happen any time in any number of ways.

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