Mitochondrial Neuropathology



Coordinator: Dr. Albert Quintana Romero



- Dr. Albert Quintana Romero


 To function, cells mostly rely on the ability of the mitochondrial respiratory chain to produce energy in the form of adenosine triphosphate, which they subsequently use to maintain their metabolic balance. Severe alterations of the mitochondrial machinery involved in energy generation lead to a group of fatal pathologies known as mitochondrial disease (MD), affecting 1:5000 births. Currently, there is no cure and the treatments available are mostly ineffective.


Mitochondrial dysfunction-mediated pathologies are characterized by restricted anatomical and cellular specificity, where select cell types show increased vulnerability for the pathological process. In this regard, high energy-requiring tissues such as the nervous system are primarily affected. However, the mechanisms leading to neuronal susceptibility to mitochondrial dysfunction are largely unknown.


Our research is focused on uncovering the mechanisms underlying mitochondrial-mediated neuronal death by targeting the following areas:


1) Development and implementation of ground-breaking, high-resolution, novel cell type-specific molecular biology methods to achieve molecular and cellular dissection of affected neurons, with a significant impact in MD research and neuroscience.


2)  Achieve combined dissection of functional connectome and behavior, using state-of-the-art technology such as optogenetics and fiber photometry to define its contribution to neuronal function in physiology and pathology.


3) Provide novel, high-throughput, high-resolution platforms to allow target identification and validation, leading to significant breakthroughs in therapies for MD and other neurodegenerative diseases with mitochondrial affectation, such as Parkinson’s or Alzheimer’s Disease.



Active projects:


1) ERC-2014-StG-638106

2) SAF2017-88108-R

3) 2017-SGR-323

4) SAF2014-57981-P




Featured publications: 


- Rainwater AR, Sanz E, Palmiter RD, Quintana A. Striatal GPR88 modulates foraging efficiency. J Neurosci. 37(33):7939-7947(2017).


- Padilla SL, Qiu J, Soden ME, Sanz E, Nestor CC, Barker FD, Quintana A, Zweifel LS, Ronnekleiv OK, Kelly MJ, Palmiter RD. Agouti-related peptide neural circuits mediate adaptative behaviors in the starved state. Nat Neurosci 19(5):734-741 (2016).


- Liu L, Zhang K, Sandoval H, Yamamoto S, Jaiswal M, Sanz E, Li Z, Hui J, Graham BH, Quintana A,Bellen HJ.  Cell. 160(1-2):177-90. (2015)


- Johnson SC, Yanos ME, Kayser EB, Quintana A, Sangesland M, Castanza A, Uhde L, Hui J, Wall VZ, Gagnidze A, Oh K, Wasko BM, Ramos FJ, Palmiter RD, Rabinovitch PS, Morgan PG, Sedensky MM, Kaeberlein M. mTOR inhibition alleviates mitochondrial disease in a mouse model of Leigh syndrome. Science. 342(6165):1524-8 (2013)


- Quintana A, Sanz E,Wang W, Storey GP, Güler AD, Wanat MJ, Roller BA, La Torre A, Amieux PS, McKnight GS, Bamford NS, Palmiter RD. Lack of GPR88 enhances medium spiny neuron activity and alters motor- and cue-dependent behaviors. Nat Neurosci. 15(11):1547-1555 (2012).







Ref: SGR2017-323