CIPF investigates new causes of mitochondrial diseases.

The laboratory of cellular organization of CIPF investigates new approaches in understanding and diagnosis of a disease type rare.

– This is a group of rare diseases that are degenerative and affect central nervous system and muscle

Valencia, March 2010.- Research Center Prince Philip includes among its lines of research, studies that provide new advances in the identification of mitochondrial diseases, a heterogeneous group of rare diseases that affect the mitochondria of the cells and they may give rise to any symptom in any organ or tissue and any age.

Mitochondria are structures of our cells, inside which is carried out Рamong other vital functions Рcellular respiration, process by which the energy contained in food is stored in rico-energ̩ticas molecules that make possible our metabolism.

In order to perform all their functions, mitochondria need to import more than thousand proteins that have to be transferred to the interior through a sophisticated transport machinery ” located in the membranes of mitochondria themselves.

The laboratory of cellular organization of CIPF, directed by Dr. José Hernández Yago, brings a new perspective in the characterization of mitochondrial diseases: identify those that are due to defects in the components of the transport machinery ”, prevent or reduce the entry of certain proteins within mitochondria.

Thus, this group is investigating the known as Mohr Tranebjaerg syndrome ”, which gives rise to a pathological pattern characterized by progressive deafness from early age, progressive Dystonia, blindness, cortical, and finally mental impairment and paranoia.

In addition, this team of scientists is investigating a group of heterogeneous Clinic patients – non-family – have the same mutation in a gene that encodes a key protein in the import of proteins.

A challenge for medicine

Mitochondrial diseases are severe and progressive diseases affecting muscles (myopathies) and the central nervous system (neurodegenerative diseases), and by difficult diagnosis and treatment, pose a challenge for medicine.

Rare diseases are serious pathologies affecting the physical capacities, skills, mental and sensory qualities and behaviour of patients.

With these lines of research, CIPF contributes to the study of diseases rare, also known as rare diseases ”, with the target future move the scientific advances of their laboratories to clinical practice.